bluuebunny/crossref_metadata_2025 huggingface dataset:
Human β‐mannosidosis: a 3‐year‐old boy with speech impairment and emotional instability
Authors: Poenaru Livia , Akli Saïd , Rocchiccioli Francis , Eydoux Fatrica , Zamet Pierre
Published: July 2010

β‐mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major manifestations of the disorder. The heterogeneous manifestations of the disease have been presented in seven previous patients. We describe a further case of European descent with an infantile onset of the disease, with the features of speech impairment as the first symptom, β‐mannosidase activity was completely deficient in the patient and a heterozygote level was found in the parents. In addition, mannosyl‐N‐acetylglucosamine was identified in the patient's urine in keeping with the diagnosis of β‐mannosidosis.
Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?
Authors: van Maldergem L. , Wetzburger C. , Verloes A. , Fourneau C. , Gillerot Y.
Published: July 2010

Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet 1992:41: 22–24.

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan‐Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden‐Walker syndrome and Tel‐Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme pheno‐typic variant of one of the above‐mentioned syndromes.
Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature
Authors: Sarda P. , Lefort G. , Taviaux S. , Humeau C. , Rieu D.
Published: July 2010

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D. Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature. Clin Genet 1992:41:25–27.

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal interstitial del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.
Homozygosity for the transthyretin‐Met30‐gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences
Authors: Holmgren Gōsta , Bergström Sven , Drugge Ulf , Lundgren Erik , Nording‐Sikström Carin , Sandgren Ola , Steen Lars
Published: July 2010

Holmgren G, Bergström S, Drugge U, Lundgren E, Nording‐Sikström C, Sandgren O, Steen L. Homozygosity for the transthyretin‐Met30‐gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1992:41:39–41.

Familial amyloidotic polyneuropathy (FAP) with a mutation in position 30 of transthyretin (TTR) (previously called prealbumin) is an autosoma! dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity for the TTR‐Met30‐gene using Southern analysis in four Swedish individuals. We have found it possible to detect homozygosity for the Met‐30 mutation by amplifying discrete regions of the TTR‐gene using polymerase chain reaction (PCR), and the amplification products restricted with Nsil analysed by gel electro‐phoresis. Clinical data on seven homozygous individuals, including three new cases, are presented.
On the variable expression of the Brachmann‐de Lange syndrome
Authors: de Oie‐Smulders Christina , Theunissen Pierre , Schrander‐Stumpel Connie , Frljns Jean Pierre
Published: July 2010

de Die‐Smulders C, Theunissen P, Schrander‐Stumpel C. On the variable expression of the Brachmann‐de Lange syndrome. Clin Genet 1992:41:42–45.

A mother of normal intelligence and her moderately mentally retarded son, both with the typical facia! features of the Brachmann‐de Lange syndrome, are reported. We discuss the variable expression of the Brachmann‐de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal dominant cases show milder symptoms in general. In our opinion, a de novo autosomal dominant mutation causes the severe form of the syndrome, recurrence within sibships being explained by germline mosaicism. In all convincingly autosomal dominant cases we found that the mother is the transmitting parent, suggesting genomic imprinting.
Treatment for B‐cell‐type lymphoma in a girl associated with Bloom's syndrome
Authors: Oto Setsuo , Miyamoto Shigeki , Kudoh Fumiyo , Horie Hirosbi , Kinugawa Naoko , Okimoto Yuri
Published: July 2010

Ota S, Miyamoto S, Kudoh F, Horie H, Kinugawa N, Okimoto Y. Treatment for B‐cell‐type lymphoma in a girl associated with Bloom's syndrome. Clin Genet 1992:41:46–50.

A 12‐year‐old girl suffering from Bloom's syndrome developed B‐cell‐type lymphoma in the epipharynx. She was identified as having Bloom's syndrome at the age of 3.

While the tumor was eradicated completely by induction chemotherapy, the bone marrow suppression was severe and persistent. For this reason, we modified subsequent chemotherapy to a milder form. Thus the remaining therapy could be safely completed. This is the first case clearly diagnosed as having epipharyngeal B‐cell‐type lymphoma in the Bloom's Syndrome Registry.
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent
Authors: Jones L. A. , Skara J. C. , Cohen A. S. , Harding J. A. , Milunsky A. , Skinner M.
Published: July 2010

Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloid polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992:41: 70–73.

Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin. Several disease‐related variants of the protein, each with a different amino acid substitution and correlating DNA point mutation, have been identified. The TTR gene from a patient suffering from this disorder was asymmetrically amplified and directly sequenced, revealing a cytosine for thymine substitution in the second base of codon 30 and the creation of a novel Cfo I restriction endo‐nuclease site in exon 2. This mutation results in a previously undescribed substitution of an alanine for valine in the final TTR protein. Analysis of the amino acid mutation reveals it to be a hydrophilic substitution at a hydrophobic core position. Alanine at position 30 represents the second FAP‐associated mutation at position 30 in TTR.
A lethal syndrome resembling branchio‐oculo facial syndrome
Authors: Hind A. V. , Torack Richard , Dowton S. B.
Published: July 2010

Hing AV, Torack R, Dowton SB. A lethal syndrome resembling branchio‐oculo‐facial syndrome. Clin Genet 1992:41: 74–78.

Branchio‐oculo‐facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocuiar anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation {holoprosencephaly and meningo‐encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio‐oculo‐facial syndrome, the complex may represent a new multiple malformation syndrome.
The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report
Authors: Verma Ram S. , Conte Robert A. , Sayegh Sami L. , Kanjilal Debasis
Published: July 2010

Verma RS, Conte RA, Sayegh SE, Kanjilal D. The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report. Clin Genet 1992:41: 82–86.

Interstitial or terminal deletion resulting in partial monosomy of various segments of the long arm of chromosome 7 was first recorded over two decades ago. Since then, a number of reports have correlated the severity of clinical manifestations with the length of the deletion involved. However, difficulty remains in defining a so‐called “distinct syndrome”. We present a new case with the shortest interstitial deletion of the long arm of chromosome 7 bands q33–35, i.e. 46,XX,del(7)(pter →q33::q35 → qter). A 4‐year‐old black female was referred for cytogenetic evaluation due to neurodevelopmental delay. Pertinent physical examination at birth was cleft lip and cleft palate which required corrective surgery. At 2 years of age, a myringotomy tube was inserted for repeated ear infection and a hearing aid was required for conductive deafness. Neurological examination revealed poor eye contact, and severe mental and motor retardation. We reviewed 21 cases of a partial interstitial deletion of varied segments of the long arm of chromosome 7, but we were unable to establish a definite relationship with the deletion of various 7q segments with any specific clinical manifestations.
A girl with 71,XXXXY karyotype
Authors: Maaswinksl‐Mooij P. D. , van Zwieten P. , Mollevanger P. , van Noort E. , Beverstock G.
Published: July 2010

Maaswinkel‐Mooij PD, van Zwieten P, Mollervanger P, van Noort E, Beverstock G. A girl with 71,XXXXY karyotype. Clin Genet 1992: 41: 96–99.

A girl with a 71,XXXXY karyotype is described. Internal and external genitalia were female despite the presence of a Y‐chromosome.
Quality control in routine chromosome analysis: prediction of total number of bands for the individual case analyzed
Authors: Claussan U. , Kleider W. , Muller H.‐G. , Wills N. , Baumann H. A.
Published: July 2010

Claussen U, Kleider W, Müller H‐G, Wille N, Baumann HA. Quality control in routine chromosome analysis: prediction of total number of bands for the individual case analyzed. Clin Genet 1992: 41: 100–104.

In routine diagnosis it is of importance for each single analysis to provide information about the level of quality at which the chromosomal analysis has been performed. The number of bands counted can be used as a direct criterion for the level of quality. Statistical prediction methods via linear regression were employed in order to predict the total number of bands of a haploid set of the metaphase (TNB) from those of single chromosomes or pairs of chromosomes. It was demonstrated that TNB can be predicted successfully by counting bands on just one chromosome, where chromosomes C2, C4, C5 or C7 were found suitable for prediction. If pairs of chromosomes are used to predict TNB, we would recommend C4/C7, C5/C6, and C2/C9.
Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis
Authors: Bergan A. A. B. , Schuurman L J. M. , van den Born L. I. , Samanns G. , van Dorp D. B. , Pinckers A. J. L. G. , Bakker E. , van Ommen G. J. B. , Gal A. , Bleeker‐Wagemakers E. M.
Published: July 2010

Bergen AAB, Schuurman EJM, van den Born LI, Samanns C, van Dorp DB, Pinckers AJLG, Bakker E, van Ommen GJB, Gal A, Bleeker‐Wage‐makers EM. Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis. Clin Genet 1992: 41: 135–138.

X‐linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship‐Falls type (OAl) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter‐STS‐DX237‐(OA1,DXS 143.DXS85)‐DXS 16‐DXS43‐Xcen. Although the position of OAI has yet not been fully resolved, we report on the first carrier detections in XOA of the Nettleship‐Falls type by DNA analysis using markers which unquestionably flank OAI.
Partial trisomy 19p: case report and natural history
Authors: Salbert B. A. , Solomon M. , Spence J. L. , Jackson‐Cook C. , Brown J. , Bodurtha J.
Published: July 2010

Salbert BA, Solomon M, Spence JE, Jackson‐Cook C, Brown J, Bodurtha J. Partial trisomy 19p: case report and natural history. Clin Genet 1992: 41: 143–146.

Partial trisomy 19p was noted in an infant delivered at 39 weeks gestation with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and multiple dysmorphic features. Chromosomes obtained following amniocentesis at 32 weeks gestation revealed that the fetus was partially trisomic for 19p and partially monosomic for a portion of the terminal band of 3q, having inherited a derivative chromosome 3 from her father [46,XX,‐3, + der(3)t(3;19)(q29;p13.2)pat]. The father was found to be the carrier of a balanced translocation between chromosomes 3 and 19 [46,XY,t(3;19)(q29;p13.2)]. The only other case of partial trisomy 19p previously reported was an infant with partial trisomy 19p and partial monosomy 13q who died at 59 days of age. This report by Byrne et al. [(Am J Hum Genet 1980: 32: 64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies.
Karyotype/phenotype correlation in females with short stature
Authors: Temtamy Samia A. , Ghali Isis , Salam Mouchira A. , Hussein Fawzia H. , Ezz Eman H. A. Aboul , Salah Nermin
Published: July 2010

Temtamy SA, Ghali I, Salam MA, Hussein FH, Ezz EHAA, Salah N. Karyotype/phenotype correlation in females with short stature. Clin Genet 1992:41: 147–151.

We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45, X (n = 22): 46, XX (n= 11); 45, X/ 46, XX (n= 10); 46, XX/46, Xi(Xq) (n = 4); 46, XX/46, XXq‐ (n = 3); 46, XX/ 46, XXp‐ (n = 2); 46, Xi(Xq) (n = 2); 45, X/46, Xi(Xq) (n = 2); 46, XXp‐(n= 1); 46, XX/47, XXX (n= 1); 46, XXq‐ (n= 1); 45, X/46, X(ry) (n=1). Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes. The highest somatic scores and the most severe clinical manifestations were noted in cases of pure 45, X Turner and the mildest in 46, XX/ 46, XX(str) mosaics or pure 46,XX, including hypergonadotrophic hypo‐gonadism. Our findings revealed a dosage effect of the X chromosome on phenotype, thus confirming that partial X chromosome inactivation modifies somatic and pubertal development. Our results also support both the additive and interactive hypotheses of karyotype/phenotype correlation.
Full 69,XXY triploidy and sex‐reversal: a further example of true hermaphrodism associated with multiple malformations
Authors: Petit P. , Moerman Ph. , Fryns J. P.
Published: July 2010

Petit P, Moerman P, Fryns JP. Full 69,XXY triploidy and sex‐reversal: a further example of true hermaphrodism associated with multiple malformations. Clin Genet 1992: 41: 175–177.

A 20‐week gestational age fetus with full triploidy and multiple malformations is presented. In all examined lymphocytes, fibroblasts and chori‐onic villi, a 69,XXY karyotype was found. Autopsy examination revealed bilateral ovotestes but, no evidence of Müllerian derivatives.
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec
Authors: Bergeron Jean , Normand Thierry , Bharucha Adl , van Murtby M. R. , Julien Pierre , Gagné Claude , Dionne Carole , de Braekeleer Marc , Brun Daniel , Hayden Michael R. , Luplen Paul J.
Published: July 2010

Bergeron J, Normand T, Bharucha A, Ven Murthy MR, Julien P, Gagné C, Dionne C, De Braekeleer M, Brun D, Hayden MR, Lupien PJ. Prevalence, geographical distribution and genealogical investigations of mutation 188 of Hpoprotein lipase gene in the French Canadian population of Québec. Clin Genet 1992:41: 206–210.

Familial lipoprotein lipase deficiency (FLD) is of particular interest to the French Canadian population of Québec since the largest concentration of homozygotes and carriers of this genetic disease in the world resides in this area. We have previously described a missense mutation (M‐188) in the lipoprotein lipase (LPL) gene which was present in FLD patients belonging to different ancestries, including a number of French Canadians (Monsalve MV et al. J Clin Invest 1990: 86: 728–734). In the present report, we show that this mutation, although found in largest absolute numbers among French Canadians as compared to other groups in the world, accounts for only a small proportion (24%) of all the LPL mutant alleles in this population. The M‐188 occurs either in the homozygote state or as a compound hétérozygote with another LPL mutation. Analysis of geographic distribution indicates that the M‐188 is more prevalent in western Québec, with the highest carrier rate in the Mauricie region. Genealogical reconstruction leads to the recognition of four founders for M‐188, all emigrants from France to Québec in the 17th century.
Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe
Authors: Maguld Nagwa A. , Hablblan Razwan
Published: July 2010

A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(pll.31→qter), confirmed by in situ hybridization using non‐radioactive biotin‐labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 is reviewed.
Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age
Authors: Brandenburg Helen , Gho Coon G. , Jahoda Milena G. J. , Stijnen Theo , Bakker Hans , WIadimlroff Jury W.
Published: July 2010

The effect of the introduction of chorionic villus sampling on the utilization rate of prenatal diagnosis in advanced maternal age was studied during the period 1 January 1985–1 January 1991. On the first of January 1985, the age limit for prenatal diagnosis in The Netherlands was lowered from 38 to 36 years of age. The overall uptake rate during the studied period increased significantly, but only because of the increased uptake rate in the group 36 and 37 years. In the maternal age group of 42 years and older, an uptake rate as low as 15.9% was established. This was mainly determined by the relatively high percentage (73.0%) of women from ethnic minorities in this age group. The number of CVS procedures increased significantly during the study period, but the utilization rate was not influenced, since the number of amniocenteses decreased accordingly. An increase in acceptability of prenatal diagnosis by women of advanced maternal age due to early testing and early termination of pregnancy could not be substantiated in the present study.
An additional patient with the 3C syndrome
Authors: Gurrieri F. , Narl G.
Published: July 2010

We report on an 8‐month‐old child with a dolichocephalic head due to prominent forehead and occiput, Dandy‐Walker malformation, cleft palate, congenital heart defect and other minor anomalies. He represents a new case of the 3C syndrome, the fifth described in the medical literature.
Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier
Authors: Chernos Judy E. , Fowlow S. Boatrice , Cox David M.
Published: July 2010

A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high‐pitched mewing cry characteristic of cri du chat syndrome. Chromosome studies from both peripheral blood and fibroblasts showed a 46,XX,5p–karyotype. Parental chromosome studies revealed that the mother carried an apparently balanced pericentric inversion of one chromosome no. 5, 46,XX,inv(5)(pl4q35). Meiotic crossing‐over in the mother within the inverted segment of chromosome 5 gave rise to the unbalanced karyotype, 46,XX,rec(5)dup q, inv(5)(pl4q35)mat in the infant. A small terminal segment of the long arm of chromosome 5 (q35‐pter) is duplicated with a deletion of the short arm of chromosome 5 (pl4‐pter), accounting for the features of cri du chat syndrome. Fewer than 1 in 200 of cri du chat syndrome cases are due to recombination aneusomy arising from a parental inversion of chromosome 5. Some of these cases, however, do not have typical cri du chat syndrome, reflecting significant duplication of 5q material. These cases are reviewed with the present case, and recombination behaviour leading to chromosome imbalance is discussed.
Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle
Authors: Fagerlund T. , Islander G. , Ranklov E. , Harbltz I. , Hange J. G. , Mokleby E. , Barg K.
Published: July 2010

Absolute linkage between the gene, on chromosome 19, for the calcium release channel (CRC) of the sarcoplasmic reticulum in skeletal muscle and malignant hyperthermia (MH) has been reported by other workers. In the present study of three Swedish Families informative with respect to this linkage relationship, definite recombinants were found in two families. We conclude that mutations in other genes than the CRC gene can cause the clinical picture of MH. Accordingly, MH appears to be genetically heterogeneous.
XbaI polymorphism of the apolipoprotein B gene and plasma lipid and lipoprotein response to dietary fat and cholesterol: a clinical trial
Authors: Friedlander Y. , Kaufmann N. A. , Cedar H. , Kark J. D.
Published: July 2010

Friedlander Y, Kaufmann NA, Cedar H, Kark JD. XbaI polymorphism of the apolipoprotein B gene and plasma lipid and lipoprotein response to dietary fat and cholesterol: a clinical trial.

Clin Genet 1993: 43: 223–231. © Munksgaard, 1993

A dietary trial was carried out on a group of offspring whose parents were hospitalized for an acute myocardial infarction. The XbaI Restriction Fragment Length Polymorphism (RFLP) was used to examine the genetic contribution of variation at this apo B locus to the response of lipids and lipoproteins to dietary manipulations. Twenty participants were homozygotes for the 8.0 kb fragment (X1X1), two were homozygotes for the 5.0 kb fragment (X2X2), and 15 were heterozygotes (X1X2). Subjects were randomized to a 5‐week crossover study. Half began on a low SFA ‐ cholesterol (LSC) diet for 5 weeks and, after a washout period of 4 weeks, they were placed on a high SFA ‐ cholesterol (HSC) diet for a second period of 5 weeks. This order was reversed in the second group of participants. Significant changes in total cholesterol, LDL‐C, and apo B were observed when subjects were moved from the LSC to the HSF diet. The corresponding average change induced by the dietary manipulations in X1X1 subjects compared with subjects with X2 allele were: 18.1\pm17.6 mg/dl and 9.5\pm19.6 mg/dl for total cholesterol and 15.8\pm15.3 mg/dl and 4.8\pm20.9 mg/dl for LDL‐C, respectively. Our observation indicated that variation at the apo B XbaI locus may interact with baseline levels to determine individual dietary response in LDL‐C level. However, the differences between the genotypic classes were not statistically significant, suggesting that the apo B XbaI locus is not a major determinant of interindividual differences in lipid and lipoprotein response to diet in this population.
Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR
Authors: Gökgöz Nalan , Kuseyri Faik , TopaloǦlu Haluk , Yüksel‐Apak Memnune , Kirdar Betül
Published: July 2010

Gökgöz N, Kuseyri F, TopaloǦlu H, Yüksel‐Apak M, Kirdar B. Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.

Clin Genet 1993: 43: 261–266. © Munksgaard, 1993

We have screened 76 DMD and 5 BMD patients for deletions, using two separate Multiplex gene amplification systems. The use of both systems together revealed deletions in 52% of the cases in the Turkish population. The majority of these deletions (33/37) were found to be localized within the central region of the dystrophin gene. The remaining deletions were mapped to the proximal hotspot. Deletion end‐points were identified by PCR and/or by Southern blot analysis with cDNA probes, and exceptions to the Open Reading Frame (ORF) hypothesis are discussed. PCR‐based techniques to screen the pER.T87.15/XmnI, pERT87.15/BamHI, and pERT87.8/TaqI polymorphisms were used for linkage analysis in the Turkish DMD/BMD families, and approximately 70% of the mothers at risk were found to be informative for at least one of these polymorphisms studied.
Craniofacial anthropometric studies in Waardenburg syndrome type I
Authors: Da‐Silva Elias O. , Batista Jose E. M. , Medeiros Marco A. B. , Fonteles Sônia M. S.
Published: July 2010

da‐Silva EO, Batista JEM, Medeiros MAB, Fonteles SMS. Craniofacial anthropometric studies in Waardenburg syndrome type I.

Clin Genet 1993: 44: 20–25. © Munksgaard, 1993

A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the same sex and age were established for comparison. The head circumference, clivus length and facial depth were smaller in affected individuals. The patients also had narrow nose, marked hypoplasia of the nasal bone, short philtrum, and short and retropositioned maxilla. A discriminant analysis revealed that the inner intercanthal distance, philtrum length, lower facial height and nasal bone length were excellent discriminating parameters of WSI.
A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984
Authors: Czeizel A. E. , Vitéz M. , Kodaj I. , Lenz W.
Published: July 2010

Czeizel AE, Vitéz M, Kodaj I, Lenz W. A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984. Clin Genet 1993: 44: 32–36. © Munksgaard, 1993

Radial and tibial deficiencies are frequently (70%) associated with non‐limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more frequent, there were milder subtypes and one‐limb involvement was found in 70% of cases, tibial deficiencies were rare, mild subtypes did not occur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases had tibial aplasia with split hand \pm foot of autosomal dominant inheritance. Of 40 cases, four were familial. Findings of a case‐control study on this population‐based and validated 10‐year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.
Malignant lymphoma in a Bloom's syndrome patient treated with insulin
Authors: Kondo Naomi , Yamada Yukiji , Asano Junichi , Yagi Yoshikazu , Orii Tadao
Published: July 2010

Clin Genet 1993: 44: 51–52. © Munksgaard, 1993
Ridge hypoplasia and ridge dissociation: minor physical anomalies in autistic children
Authors: Arrieta Isabel , Martinez Begoña , Criado Begoña , Lobato Natividad
Published: July 2010

Clin Genet 1993: 44: 107–108. © Munksgaard, 1993
MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/ 14q duplication
Authors: Fryns J. P. , Borghgraef M. , Lemmens F. , van den Berghe H.
Published: July 2010

Fryns JP, Borghgraef M, Lemmens F, Van den Berghe H. MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/14q duplication.

Clin Genet 1993: 44: 146–148. © Munksgaard, 1993

In this report we present the clinical history and findings in a female newborn with 4q deficiency/14q duplication, the unbalanced product of a paternal t(4;14)(q33;q32). The clinical symptoms and signs observed in this child up to the age of 14 months were most compatible with the diagnosis of Hallermann‐Streiff syndrome.
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height
Authors: Legius E. , Mulier M. , van Damme B. , Fryns J. P.
Published: July 2010

Legius E, Mulier M, Van Damme B, Fryns JP. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.

Clin Genet 1993: 44: 152–155. © Munksgaard, 1993

Two brothers and a sister presented with spondyloepiphyseal dysplasia and progressive arthropathy. Stiffness and restricted mobility of several large joints had been present since childhood. Their adult height was normal, and skeletal radiography showed mild platyspondyly, abnormal epiphyses and severe osteoarthrosis with extensive synovial osteochon‐dromatosis. This autosomal recessive type of spondyloepiphyseal dysplasia tarda must be distinguished from other forms of spondyloepiphyseal dysplasia, rheumatoid arthritis in childhood and osteoarthrosis in adults.
Case of human chimerism detected by unbalanced chromosome translocation?
Authors: Woods C. G. , Smith K. K.
Published: July 2010

Clin Genet 1993: 44: 166. © Munksgaard, 1993
De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy
Authors: Jardine P. , Jones M. , Tyfield L. , Upadhyaya M. , Lunt P.
Published: July 2010

Clin Genet 1993: 44: 167. © Munksgaard, 1993
Oral‐facial‐digital syndrome with fibular aplasia: a new variant
Authors: Figuera L. E. , Rivas F. , Cantú J. M.
Published: July 2010

Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant.

Clin Genet 1993: 44: 190–192. © Munksgaard, 1993

The oral‐facial‐digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10‐month‐old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral‐facial‐digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.
Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier
Authors: Cotton C. , Cummins M. , Smith A.
Published: July 2010

Cotton C, Cummins M, Smith A. Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13: 18) (q12;q11) carrier.

Clin Genet 1993: 44: 193–195. © Munksgaard, 1993

We present a case in which alternate, adjacent 2 and 3:1 meiotic segregations have occurred in the pregnancies of a female carrier of a balanced reciprocal translocation ‐ 46,XX,t(13;18) (q12;q11). Products of five conceptions effectively showed trisomy 18q, trisomy 18p or monosomy 18p. This is one of the rare rearrangements which can give rise to a variety of segregation modes including adjacent 2.
Retinitis pigmentosa in Southern Africa
Authors: Greenberg J. , Bartmann L. , Ramesar R. , Beighton P.
Published: July 2010

Greenberg J, Bartmann L, Ramesar R, Beighton P. Retinitis pigmentosa in Southern Africa.

Clin Genet 1993: 44: 232–235. © Munksgaard, 1993

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders which are a common cause of genetic blindness. The relative frequencies of the different forms of RP in South Africa, as determined from the register at the DNA banking centre for RP at the Department of Human Genetics, University of Cape Town, are presented and discussed. Of the 125 families analysed, 29 (23%) showed autosomal dominant, 33 (27%) autosomal recessive and 3 (3%) X‐linked inheritance. In 10 families the pedigree data were insufficient to allow accurate genetic subtyping and a further 50 patients were sporadic without a family history of RP or other syndromic features which would allow categorization.
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases
Authors: McMullin G. P. , Super Maurice , Clarke Michael A.
Published: July 2010

McMullin GP, Super M, Clarke MA. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases.

Clin Genet 1993: 44: 249–253. © Munksgaard, 1993

Two cases are described which presented with diffuse swelling of one cheek and hypertrophy of the underlying maxilla and mandible. Both children developed verrucous pigmented streaks over the area of swelling, and had epilepsy and severe mental subnormality. One of the children had a contralateral hemiplegia and his condition had a progressive course. The other child had no focal neurological signs and his disease seemed to be non‐progressive. Although the facial appearance of both children suggested the diagnosis of encephalocraniocutaneous lipomatosis syndrome, it was not possible to demonstrate the presence of any lipomata in either case. The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.
Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations
Authors: Hanssen A. M. N. , Werquin H. , Suys E. , Fryns J. P.
Published: July 2010

Hanssen AMN, Werquin H, Suys E, Fryns JP. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.

Clin Genet 1993: 44: 281–286. © Munksgaard, 1993

We report Cowden syndrome in a large four‐generation family, paying special attention to the apparently greater severity and earlier onset of signs and symptoms in subsequent generations. Macrocephaly was present in all affected individuals and was markedly progressive in three of six affected children of the fourth generation, and associated with slight to moderate delay in psychomotor development.
De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)
Authors: Robin Nathaniel H. , Magnusson Mark , McDonald‐McGinn Donna , Zackai Elaine H. , Spinner Nancy B.
Published: July 2010

Robin NH, Magnusson M, McDonald‐McGinn D, Zackai EH, Spinner NB. De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3) (q25.1q26.1). Clin Genet 1993: 44: 335–337. © Munksgaard, 1993

A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed.
Hemophilia B in a 46,XX female probably caused by non‐random X inactivation
Authors: Wadelius Claes , Lindstedt Monika , Pigg Maritta , Egberg Nils , Pettersson Ulf , Anvret Maria
Published: July 2010

A female whose father had severe hemophilia B was found to have a factor IX activity of about 1%. No chromosomal abnormality could be detected and DNA analysis gave no indications of deletions or mutations of Taq I cleavage sites in the factor IX gene. Analysis of the methylation pattern of locus DXS255 indicates that the expression of hemophilia B in this patient is caused by non‐random X inactivation.
Infant mortality in myotonic dystrophy in Saguenay‐Lac‐St‐Jean: a historical perspective
Authors: Dao To‐Nga , Mathieu Jean , Bouchard Jean‐Pierre , de Braekeleer Marc
Published: July 2010

Infant mortality among children born to 373 individuals with myotonic dystrophy (MD) who lived in Saguenay‐Lac‐St‐Jean during the period 1838 to the present time was analyzed using a case‐control approach based on a population register. A statistically significant increase was found in the rate of deaths during the first week of life among children born to MD mothers (57.5%0) compared to control mothers (34.8%0) and MD fathers (39.1%0) (p<0.01). The stillbirth rate was not increased. The rate of mortality after the first week fell significantly in both MD and control groups during the period of observation. There was evidence of a slight selective disadvantage among this MD population.
A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet
Authors: Livingstone Jean , Axton R. A. , Mennie Moira , Gilfillan Annette , Brock D. J. H.
Published: July 2010

An information leaflet, inviting participation in an antenatal screening trial for cystic fibrosis, was sent to 388 couples together with the pregnant woman's first clinic appointment. The leaflet pointed out that couples would be treated as a unit and that further action would be taken only if both partners were found to carry mutant alleles. Participants and non‐participants were also asked to fill in a questionnaire eliciting their views on the leaflet. Three hundred and twelve (80%) questionnaires were returned and 253 (65%) couples elected to be screened. More than 90% of respondents found the leaflet easy to understand, although about 10% wanted more information on cystic fibrosis. The main reason for entering the trial was to avoid the birth of an affected child, and the main reason for non‐entry was opposition to termination of pregnancy. There was little anxiety about the prospect of being screened. However, more than a third of couples mis‐identified their risk of both carrying a CF gene, despite the figure of 1 in 600 being explicitly stated in the leaflet.
Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q1c to 6q16
Authors: Roland B. , Lowry R. B. , Cox O. M. , Ferreira P. , Lin C. C.
Published: July 2010

A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features similar to other reported cases with deletion of 6q1. The individuals with duplication of 6q14 to 6q16 have moderate mental retardation, short stature, obesity, microcephaly, brachycephaly, a short smooth philtrum, central hair whorl, simian creases, 5th finger brachydactyly and skeletal disproportion. In the 4‐generation family, CCR carriers have a 20% empiric risk of phenotypically abnormal livebirths.
The DM mutation; diagnostic applications in the Finnish population
Authors: Nokelainen P. , Shelbourne P. , Shaw D. , Brook J. D. , Harley H. G. , Johnson K. , Somer H. , Savontaus M.‐L. , Peltonen L.
Published: July 2010

A pair of marker loci, D19S63 and D19S51, which are tightly linked to the myotonic dystrophy (DM) locus, were used to evaluate diagnostic applicability in the Finnish population. Results were then compared to direct detection of the mutation. The D19S63 locus revealed a linkage disequilibrium, since in 16 DM families as many as 75% of DM chromosomes carried the same allele 3 for D19S63, and 25% carried allele 1. However, when the data for D19S51 and D19S63 were considered together as a haplotype, the statistical significance of this linkage disequilibrium was considerably reduced. As expected, the best method for reliable evaluation of the carrier risk was direct analysis of the mutation. Thirteen particularly difficult cases were resolved and in 46% of them the decision could be made only by direct visualization of the mutation. However, in a few cases where the size of the CTG‐repeat expansion was close to the normal size range, linked markers proved to be useful to determine the affected chromosomes. Present findings indicate that analysis of the D19S63 locus coupled to direct demonstration of the mutation provides the basis for DNA diagnostics of DM in the Finnish population.
Phenotype of 49,XXYYY
Authors: Das G. P. , Shukla Archana , Verma Ishwar C.
Published: July 2010

A 7‐year‐old boy with 49,XXYYY karyotype is reported. Physical examination revealed facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age and moderate mental retardation.
Identification of a supernumerary der(18) chromosome by a rational strategy for the cytogenetic typing of small marker chromosomes with chromosome‐specific DNA probes
Authors: Koch Jørn , Fischer Hanne , Askholm Hanne , Hindkjær Johnny , Pedersen Søren , Kelvraa Steen , Bolund Lars
Published: July 2010

A case of a supernumerary der(18) marker chromosome is presented. The chromosomal origin of the marker chromosome was not evident by traditional chromosome analysis, but was determined by PRimed IN Situ labelling (PRINS) with chromosome specific centromere probes as primers for chain elongation in situ. For this purpose a strategy was developed which, in a few simple reactions, makes it possible unequivocally to determine the origin of any small marker chromosome. The approach does not require any hints about the origin of the chromosome prior to the analysis, since the chromosomal origin of the marker is established through PRINS reactions with pooled and single chromosome‐specific centromere probes. Identification, mosaic screening and structural analysis require a total of 8–9 such reactions and may, due to the extreme speed of the PRINS reaction, be obtained within a single working day.
Occipital horn syndrome: report of a patient and review of the literature
Authors: Tsukahara Masato , Imaizumi Kiyoshi , Kawai Shinya , Kajii Tadashi
Published: July 2010

We report an 18‐year‐old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib cage, undercalci‐fied long bones with thin cortical walls and coxa valga. Occipital horn syndrome is inherited in an X‐linked recessive fashion. Our analysis indicates that occipital horn syndrome is associated with a recognizable characteristic phenotype.
Male with type II autosomal recessive cutis laxa
Authors: Imaizumi Kiyoshi , Kurosawa Kenji , Makita Yoshio , Masuno Mitsuo , Kuroki Yoshikazu
Published: July 2010

A 5‐year‐old boy, who had pre‐ and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.
Myoclonic epilepsy and a maternally derived deletion of 15pter→13
Authors: Mizuguchi Masashi , Tsukamoto Keiko , Suzuki Yoshiyuki , Nakagome Yasuo
Published: July 2010

Deletion of a 15pter→q13 segment of maternal origin was observed in a mentally retarded infant. In addition to the symptoms common to deletions of proximal 15q, the phenotype included myoclonic epilepsy of early infantile onset. The deletion was caused by a 3:1 disjunction in the mother, who was a carrier of t(15;22) (13q;p11) translocation.
Metaphase quality can be monitored by automatic counting of bands
Authors: Lundsteen C. , Maahr J. , Gerdes T.
Published: July 2010

A high quality of cytogenetic preparations is important for maintaining a high standard in the cytogenetic laboratory. In the past, quality has been assessed by visual counting or estimation of the number of bands on chromosomes. In this paper we have counted bands automatically during karyotyping by using the Magiscan chromosome analysis system. A high correlation between automatic and visual counting was found, the automatic counting was reproducible and count figures were comparable when the karyotyping machines were operated by different technicians. The automatic counting procedure has now been included in our routine for 1 year. The highest numbers of bands were counted on slides from peripheral blood, with fewer bands for amniotic fluid and the lowest number for cells from chorionic villi. All three cell types showed significant variations in band number over time, which may be due to changes in weather conditions and/or the reagents used for cell culture, harvest and staining. It is concluded that the automatic counting procedure may be used to monitor the quality of metaphases over time and to set limits for band number on routine preparations acceptale for analysis.
Minimal genetic influences on plasma fibrinogen level in adult males in the NHLBI twin study
Authors: Reed Terry , Tracy Russell P. , Fabsitz Richard R.
Published: July 2010

Plasma fibrinogen was determined in 189 twins participating at the Indiana center during the third examination of the NHLBI twin study with a mean age of 63 years. Moderate heritability estimates were obtained from 44 complete MZ pairs and 39 complete DZ pairs. After adjustment of fibrinogen levels for age and other confounding variables related to cardiovascular disease risk, the maximum likelihood heritability estimate was only 30% (p = 0.03). Plasma fibrinogen was most strongly associated with smoking and the presence of diabetes. Omitting all subjects with diabetes or cardiovascular disease further reduced the heritability estimates slightly, and most path models including genetic parameters provided no significant improvement in fit over a model determined solely by random environmental effects. Our results are consistent with the environment rather than genetic influences having a greater influence on the level of plasma fibrinogen.
A woman with an apparent non‐mosaic 45,X delivered a 46,X,der(X) liveborn female
Authors: Palka G. , Calabrese G. , Stuppia L. , Franchi P. Guanciali , Morizio E. , Peila R. , Antonucci A.
Published: July 2010

A liveborn female with a phenotype suggestive of Down syndrome is reported. Cytogenetic lymphocyte analysis showed a 46,X der(X) karyo‐type. Fluorescence in situ hybridization (FISH) with a biotinylated probe specific for chromosome 21 showed no signal on the der(X). This marker was homogeneously painted using a specific probe for X chromosome. In addition, FISH analysis detected telomeres on the rearranged X. Therefore, the proband's karyotype was revaluated as 46,X,del(X) (pter p22.2::p11.3 qter). Cytogenetic analysis of 150 lymphocytes in the mother disclosed a homogeneous 45,X karyotype. FISH analysis of interphase nuclei using the X chromosome painting probe showed two domains of different sizes in 0.8% of cells. This led us to study further metaphases in the mother. In one out of 450 metaphases scored, after FISH with the X chromosome painting probe, the del(X) was observed, confirming that the rearranged X chromosome found in the newborn had segregated from a 45,X/46,X,del(X) mother.
X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region
Authors: Gendrot Chantal , Ronce Nathalie , Toutain Annick , Moizard Marie‐Pierre , Muh Jean‐Pierre , Raynaud Martine , Dourlens Juliette , Briault Sylvain , Moraine Claude
Published: July 2010

Gene localization was determined by linkage analysis in a large French family with X‐linked mental retardation (MRX). Seven living affected males were clinically studied and the clinical picture was characterized by moderate to severe mental handicap with poor secondary speech acquisition. Seizures, slight microcephaly, simian crease, anteverted pinnae, and macroorchidism were observed in some patients only. Linkage analysis revealed no recombination between the MRX gene and two loci: DXS255 at Xp11.22 (Zmax = 3.31 at θ= 0.00) and PGKP1 at Xq11.2‐q12 (Zmax = 3.08 at 9 = 0.00). One recombination was observed between the gene and the two loci DXS164 at Xp21.2 and DXS441 at Xq13.3, respectively. These results suggested gene localization in the pericentromeric region of the X chromosome, and the LOD scores justified assignment of the symbol MRX14 to this family.