bluuebunny/crossref_metadata_2025_split huggingface dataset:
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.
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, 1993A 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, TopaloG&#x030c;lu 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, 1993We 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, 1993A 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, 1993Radial 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.
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, 1993In 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, 1993Two 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.