bluuebunny/crossref_metadata_2025 huggingface dataset:
Autosomal recessive gingival fibromatosis with distinctive facies
Authors: Goldblatt Jack , Singer Steven L.
Published: July 2010

Hereditary gingival fibromatosis is a rare condition occurring as an isolated anomaly or as part of a genetic syndrome. The isolated or syndromic disorders are usually inherited in an autosomal dominant manner, but an autosomal recessive form has been suggested. We report on male and female siblings who have gingival fibromatosis in association with specific facial dysmorphism. Their phenotype is depicted and described to document this hitherto unreported autosomal recessive gingival fibromatosis syndrome.
Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families
Authors: Restagno Gabriella , Garnerone Simonetta , Gennaro Carla , Ferrone Marina , Carbonara Angelo
Published: July 2010

Forty‐six CF Italian patients and their parents were screened for a highly polymorphic microsatellite consisting of a variable number of CA/GT repeats in intron 8 of the CFTR gene. A strong degree of association was found between alleles 2 and 6 and the CF mutation ΔF508. Moreover, considering the haplotypes at the closely linked locus D7S23 and the microsatellite's alleles, a strong linkage disequilibrium was again found for ΔF508 and also for non‐ΔF508 CF chromosomes and the eight commonest haplotypes (B2, B6, C7, A6, A7, B7, D2 and D7). These data, compared with those described in the Spanish population, further support the common origin of the ΔF508 mutation in Southern European populations.
Choanal atresia in two unrelated patients with the Coffin‐Siris syndrome
Authors: de Jong G. , Nelson M. M.
Published: July 2010

Two unrelated patients with Coffin‐Siris syndrome are described, both patients having choanal atresia, a feature not previously described in association with this syndrome.
Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?
Authors: Antiñolo G. , Nieto M. , Borrego S. , Sierra J. , Rufo M. , Siljeström M. L.
Published: July 2010

We report a case study spanning three generations of familial spastic paraplegia, distal amyotrophy and poikiloderma. This study is the first description of an association between these three disorders. The gait disorder, the sensory and motor involvement and the skin disorder coincide in all the affected members, suggesting autosomal dominant inheritance with complete penetrance.
20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome
Authors: Grammatico P. , Cupilari F. , Rosa C. Di , Falcolini M. , Porto G. Del
Published: July 2010

We report two related patients, presenting duplication 20p, with a characteristic phenotype including normal growth pattern, mental and psycho‐motor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations. Familial chromosome analysis showed a balanced translocation t(20;21)(pll;q22) in three members of the family. These cases, together with those previously reported in the literature, allow us to make a better delineation of the duplication 20p syndrome, identifying more clearly the symptoms that must be considered as characteristic of this clinical picture.
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait
Authors: Guala A. , Germinetti V. , Sebastiani F. , Silengo M. C.
Published: July 2010

In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.
Hair‐nail dysplasia ‐ a new pure autosomal dominant ectodermal dysplasia
Authors: Pinhairo Marta , Freire‐Maia Newton
Published: July 2010

An apparently hitherto undescribed pure ectodermal dysplasia of the tricho‐onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho‐onychic subgroup to 19, and the total number of ectodermal dyspiasias to 155.
One hundred requests for predictive testing for Huntington's disease
Authors: Simpson Sheila A. , Basson Jahn , Alexander David , Allan Kathryn , Johnston Alan W.
Published: July 2010

In Grampian region, the first 100 requests for predictive testing for Huntington's disease have been analysed. Forty‐five presymptomatic predictive test results have been given, eleven families have made a decision to undergo prenatal exclusion tests, and so far eleven pregnancies have been investigated using chorion villus biopsy. This paper presents the protocol used and a descriptive analysis of those receiving results, those choosing to leave the programme, and those unable to complete it because of an unsuitable family structure or unco‐operative relatives.
Fragile site Xq27.3 in a family without mental retardation
Authors: Romain Dennis R. , Chapman Cyril J.
Published: July 2010

Romain DR. Chapman CJ. Fragile site Xq27.3 in a family without mental retardation. Clin Genet 1992:41: 33–35.

Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrome.
Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence
Authors: Graham David A. , Jewitt Monique M. , Fitzgerald Peter H.
Published: July 2010

Graham DA, Jewitt MM, Fitzgerald PH. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin Genet 1992:41: 36–38.

We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic features.
Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature
Authors: Frydman M. , Cohen H. A. , Karmon G. , Savir H.
Published: July 2010

Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature. Clin Genet 1992:41:57–61.

A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline bead circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles
Authors: Kalaydjieva L. , Dworniczak B. , Kromensky I. , Koprivarova K. , Radeva B. , Milusheva R. , Aulehla‐Scholz C. , Horst J.
Published: July 2010

Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla‐Scholz C, Horst J. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. Clin Genet 1992: 41: 123–128.

A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphe‐nylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian population.
Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita
Authors: Kehrer Hildegard , Krone Winfrid , Schindler Oetlav , Kaufmann Roland , Schrezenmeler Hubert
Published: July 2010

Kehrer H, Krone W, Schindler D, Kaufmann R, Schrezenmeier H. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 1992: 41: 129–134.

Skin fibroblast cultures from a female patient with dyskeratosis congenita revealed markedly increased frequencies of chromosomal breaks, hypodi‐ploidy, and premature centromere disjunction. The frequencies of mitotic disturbances, like ana‐ and telophase bridges, lagging chromosomes, and micronuclei were almost as dramatically elevated as in cultures from two severely affected patients with Fanconi anemia. Provided that our patient is representative for an autosomal form of dyskeratosis congenita, this type of the disease seems to be characterized by chromosomal instability with a characteristic pattern of cytogenetic abnormalities.
Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis
Authors: Decruyenaere Marlean , Evers‐Klebooms Gerry , Denayer Lleve , van deo Berghe Herman
Published: July 2010

Decruyenaere M, Evers‐Kiebooms G, Denayer L, Van den Berghe H. Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 1992: 41: 189–196.

The rate of technical advance in genetics contrasts sharply with the slow diffusion of information on this subject to the general population. In this paper, we investigate the initial knowledge about cystic fibrosis of a group of adults with increased interest in psychosocial issues, but with no special pre‐existing knowledge or training in genetics. Attitudes towards carrier screening and prenatal diagnosis for CF were also evaluated, after brief written information had been given on this disease. We found that the studied group had only a poor knowledge of the nature of CF and an even more limited awareness of its inheritance. This knowledge was mainly associated with educational level. Most respondents had no objections to population‐wide carrier screening for CF, at least if the test was proposed and not systematically imposed by the government. It is striking that a smaller proportion were interested in knowing their own carrier status. The majority of the group were in favour of prenatal diagnosis for CF. Factors associated with knowledge and attitudes are described. In the discussion, special attention is paid to the psychosocial complexity of mass screening.
Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei)
Authors: Pasyk Krystyna A.
Published: July 2010

Pasyk KA. Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei) Clin Genet 1992:41: 197–201.

Two families with multiple lateral telangiectatic nevi (LTN) (port‐wine stains or nevi flammei) in various areas of the body in two and three generations are presented. In the second family, some members in addition to LTN also had superficial (strawberry) hemangiomas and hemangioma‐like venous malformations. The pedigrees of these families indicate auto‐somal dominant inheritance of multiple LTN.
Familial Turner syndrome
Authors: Verschraegen‐Spae M‐R. , Dapypare H. , Spalaman F. , Dhondt M. , Paepe A. Da
Published: July 2010

Verschraegen‐Spae M‐R, Depypere H, Speleman F, Dhondt M, De Paepe A. Familial Turner syndrome. Clin Genet 1992:41: 218–220.

A 28‐year‐old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductive life‐span. Phenotypic implications of the cytogenetic findings in the patients are discussed, and literature data on fertility in Turner syndrome are briefly reviewed.
GM1‐gangliosidosis: tandem duplication within exon 3 of β‐galactosidase gene in an infantile patient
Authors: Oshima Akihiro , Yoshida Kunihlro , Ishlzaki Asayo , Sbimmoto Michie , Fukuhara Yuklko , Sakuraba Hltoshi , Suzuki Yoshiynkl
Published: July 2010

A 23‐nucleotide tandem duplication (GGACCTTGAAAGTACTC‐GGGACC) was found within exon 3 of the β‐galactosidase gene in a patient with infantile‐form GMl‐gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication suggested that the mutation resulted from an unequal crossover. A single base substitution 316Trp→Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother.
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q
Authors: Genuardi M. , Flamia R. , Palka G. , Parruti G. , Nsri G.
Published: July 2010

We report on a new case of trisomy for the distal portion of chromosome 5q, arising from a maternal balanced translocation, t(5;22)(q33;ql3). The patient presented with mental retardation and peculiar craniofacial anomalies, similar to those already described in trisomy 5q3. Overall, the phenotype bore some resemblance to that of the Brachmann‐De Lange syndrome. The extent of the duplicated region was investigated through a combined molecular‐cytogenetic approach, using 5q probes for gene dosage analysis by Southern blot, which allowed confirmation of breakpoint assignment to band 5q33. Since most manifestations of trisomy 5q3 are observed in patients with duplications spanning 5q34‐qter, it seems that the critical sequences involved in phenotype determination lie within this very distal segment.
Taurodontism of the mandibular first permanent molar distinguishes between the tricho‐dento‐osseous (TDO) syndrome and amelogenesis imperfecta
Authors: Seow W. Kim
Published: July 2010

Seow WK. Taurodontism of the mandibular first permanent molar distinguishes between the tricho‐dento‐osseous (TDO) syndrome and amelogenesis imperfecta.

Clin Genet 1993: 43: 240–246. © Munksgaard, 1993

The diagnosis of tricho‐dento‐osseous (TDO) syndrome is often confused with that of a variant of amelogenesis imperfecta (AI) which shows similar dental features of hypomaturation‐hypoplastic enamel defects and putative taurodontism. In this controlled study, an objective, biometric measurement technique was used to determine the prevalence and severity of taurodontism of the mandibular first permanent molar in 23 patients with AI and one patient with TDO syndrome compared with age‐ and sex‐matched controls. The published radiographs of previous cases of TDO and hypomaturation‐hypoplastic AI were also reviewed with regard to the presence and severity of taurodontism. The results indicate that in all cases of TDO, taurodontism of the molars including mandibular first permanent molars was consistently present and in a severe form. By contrast, the taurodontic defects present in all cases of AI, including the hypomaturation‐hypoplastic variant were not significantly different from matched, healthy controls. Of significance is the fact that in all the AI cases, none of the taurodontic defects were present on the mandibular first permanent molars. The results indicate that true taurodontism as indicated by a change in the mandibular first permanent molars occurs only in the TDO syndrome. This feature may be used to differentiate clearly between TDO and AI.
Correlates of genetic risk for non‐syndromic cleft lip with or without cleft palate
Authors: Mitchell Laura E. , Risch Neil
Published: July 2010

Mitchell LE, Risch N. Correlates of genetic risk for non‐syndromic cleft lip with or without cleft palate.

Clin Genet 1993: 43: 255–260. © Munksgaard, 1993

Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non‐syndromic cleft lip with or without cleft palate (CL \pm P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first‐degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25‐3.19). A positive family history of clefting increases the risk to siblings by greater than 4‐fold (O.R. =4.49; 95% C.I. 2.74‐7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the ‘at risk’ population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases. Furthermore, our findings indicate that the power to detect linkage between a genetic marker or a candidate gene and CL \pm P will increase if the study population is ascertained through individuals with bilcteral clefts of the lip, rather than through individuals with either unilateral or bilateral CL \pm P.
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS
Authors: Brandt Carsten A. , Kierkegaard Ole , Hindkjær Johnny , Jensen Peter K. A. , Pedersen Søren , Therkelsen Aage J.
Published: July 2010

Brandt CA, Kierkegaard O, Hindkjær J, Jensen PKA, Pedersen S. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.

Clin Genet 1993: 44: 26–31. © Munksgaard, 1993

A ring chromosome 20 in a male infant with epileptic seizures, mental and somatic growth retardation, and behavioural disturbances is described. Conventional cytogenetics revealed the karyotype to be 46,XY,r(20)(pter→qter) and no signs of mosaicism were found. Fluorescence in situ hybridisation using the clone p20Z1 identified the ring to be derived from chromosome 20. By counting 111 metaphases, only 7% were found to be missing the ring. The absence of telomeric sequences in the ring chromosome was demonstrated by multicolour PRINS: a three‐step PRimed IN Situ labelling technique, using unlabelled primers. A terminal deletion of both arms thus seems to be the cause of the ring formation in the proband. Bivariate flow‐analysis of chromosomes verified a deletion of the ring chromosome. The clinical and cytogenetic findings are compared with previous cases. A specific ring 20 syndrome seems justified.
A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families
Authors: Witt Michal , Jaruzelska Jadwiga , Kuczora Izabela , Matuszak Renata , Cichy Wojciech , Borski Krzysztof
Published: July 2010

Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families. Clin Genet 1993: 44: 44–45. © Munksgaard, 1993

Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR‐based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification‐created restriction site with Taql digestion was used for detection of the PAH gene mutation.
Second observation of Silver‐Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
Authors: Midro Alina T. , Debek Krystyna , Sawicka Anna , Marcinkiewicz Danuta , Rogowska Marianna
Published: July 2010

Clin Genet 1993: 44: 53–55. © Munksgaard, 1993
Retinitis pigmentosa: problems associated with genetic classification
Authors: Haim Marianne
Published: July 2010

Haim M. Retinitis pigmentosa: problems associated with genetic classification.

Clin Genet 1993: 44: 62–70. © Munksgaard, 1993

Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X‐linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small “nucleus” of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X‐linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.
Slipped capital femoral epiphysis associated with Rubinstein‐Taybi syndrome
Authors: Bonioli Eugenio , Bellini Carlo , Sénès Filippo M. , Palmieri Antonella , Stadio Mauro Di , Pinelli Giorgio
Published: July 2010

Bonioli E, Bellini C, Sénès FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein‐Taybi syndrome.

Clin Genet 1993: 44: 79–81. © Munksgaard, 1993

The association of Rubinstein‐Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE) is described in a girl aged 9 years and 10 months. SCFE has never been reported associated with RTS, neither as an isolated anomaly, nor in a familial pedigree. However, a “stiff gait” is frequently described in RTS patients and, furthermore, obesity is a frequent feature of RTS patients. Some reports in the literature suggest the need for an early diagnosis of SCFE among adolescent relatives of patients with SCFE. Since many SCFEs are asymptomatic and an early diagnosis is essential for a favorable prognosis, we suggest an annual echotomographic or radiological examination of the hips in RTS patients.
Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia
Authors: Bisat Tarek , May Kristin , Litwer Stuart , Broecker Bruce
Published: July 2010

Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia.

Clin Genet 1993: 44: 142–145. © Munksgaard, 1993

We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood.
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23
Authors: Fryns J. P. , Stromme P. , van den Berghe H.
Published: July 2010

Fryns JP, Strømme P, van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23.

Clin Genet 1993: 44: 149–151. © Munksgaard, 1993

We report a 6‐year‐old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome (blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3—q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3‐q23.
Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12
Authors: Speleman Frank , van Roy Nadine , Vos Eric De , Hilliker Carl , Suijkerbuijk Ron F. S. , Leroy Juies G.
Published: July 2010

Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RFS, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12

Clin Genet 1993: 44: 156–163. © Munksgaard, 1993

We describe the application of multi‐color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short‐ and long‐arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.
Apolipoprotein B gene DNA polymorphisms are associated with macro‐ and microangiopathy in non‐insulin‐dependent diabetes mellitus
Authors: Ukkola Olavi , Savolainen Markku J. , Salmela Pasi I. , von Dickhoff Kai , Kesäniemi Y. Antero
Published: July 2010

Ukkola O, Savolainen MJ, Salmela PI, von Dickhoff K, Kesäniemi YA. Apolipoprotein B gene DNA polymorphisms are associated with macro‐and microangiopathy in non‐insulin‐dependent diabetes mellitus.

Clin Genet 1993: 44: 177–184. © Munksgaard, 1993

The relationship between diabetic macroangiopathy or microangiopathy and apolipoprotein B (apoB) polymorphism was studied in 139 male and 129 female patients with non‐insulin‐dependent diabetes (NIDDM) mellitus, comprising consecutive patients with poor diabetic control (HBA1 13.2%\pm2.7 (SD)) referred to our hospital. Plasma cholesterol and triglyceride concentrations were higher in the patients who were homozygous for the X2 allele (presence of Xba I cleavage site). Patients with the X1 allele (absence of Xba I cleavage site) tended to have a higher frequency of macroangiopathy, although the differences were not statistically significant. There was no difference in the prevalence of microangiopathy between the groups. In subjects with only an R1 allele (= R +; homozygous for the presence of EcoR I cleavage site) the prevalence of coronary heart disease (CHD) was observed to be high (61.9%) as compared to the subjects possessing an R2 allele (= R —; homozygous or heterozygous for the absence of the EcoR I cleavage site) (46.7%; p<0.02). When the polymorphisms Xba I (subjects homozygous for the absence of the cutting site = X +; subjects homozygous or heterozygous for the presence of the cutting site = X —) and EcoR I were combined, the prevalence of macroangiopathy was observed to be high in X + R + (80.0%) as compared with X + R‐ (44.2%), X‐R+ (56.8%) and X‐R‐ (50.0%) (p<0.03). The prevalence of macroangiopathy tended to be particularly high in patients with the apoprotein E4 allele (phenotype E4\4 or E4/3), combined with either X+ or R +. Our findings suggest that variation at the apoB locus is one of the factors involved in predisposing diabetic patients to the development of arterial disease. As in previous studies the effect of the variation at the apoB gene on circulating lipid levels was observed. The data also support a role for the e4 allele of the apolipoprotein E gene as an important determinant of macroangiopathy in NIDDM.
Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16
Authors: Lindor Noralane M. , Jalal Syeed M. , Thibodeau Stephen N. , Bonde Denise , Sauser Kristen L. , Karnes Pamela S.
Published: July 2010

Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Clin Genet 1993: 44: 185–189. © Munksgaard, 1993

Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant was growth retarded and mildly dysmorphic. At age 14 months she was developmentally normal and had facial asymmetry. Her length, weight and head circumference were normal. Pure trisomy 16 was found in cells from the placenta. A normal female karyotype was found in lymphocytes from the infant. Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. Molecular analysis showed maternal uniparental heterodisomy, indicating that the trisomic conceptus arose from a nondisjunction of maternal meiosis. Fibroblasts may be the tissue of choice for detection of low‐level trisomy 16 mosaicism.
No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability
Authors: Berge K. E. , Berg K.
Published: July 2010

Berge KE, Berg K. No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability.

Clin Genet 1993: 44: 196–202. © Munksgaard, 1993

Renal kallikrein is a component of the kallikrein‐kinin‐system (KKS). Kallikrein has been shown to cleave the precursor kininogen to release small kinins, which cause vasodilatation, increased diuresis and natriures‐is. We have studied a normal restriction fragment length polymorphism (RFLP) at the renal kallikrein locus (KLK1), detectable with the restriction enzyme TaqI. In one series of 167 unrelated individuals we found a trend towards an association between genotypes in this polymorphism and level of diastolic blood pressure (DBP), but in two other series comprising 123 and 213 unrelated individuals, respectively, we found no suggestion of an association. Since the three series did not exhibit a consistent pattern of association between DBP levels and genotypes in this RFLP, we conclude that the association that appeared in one of the series was probably a chance event. There was no difference between genotypes in any of the three series, with respect to systolic blood pressure (SBP). In two series of, respectively, 157 and 120 complete monozygotic (MZ) twin pairs, there was no difference between genotypes with respect to within‐pair variation in SBP or DBP. This indicates that normal KLK1 genes, expressed as variants in this RFLP, do not participate in the determination of the limits within which life‐style factors may cause blood pressure (BP) changes. We conclude that neither “level gene” effects nor “variability gene” effects at the KLK1 locus are detectable with the polymorphism analyzed, in the Norwegian population.
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
Authors: Strømme Petter , Dahl Eilif , Flage Tor , Stene‐Johansen Helge
Published: July 2010

Strømme P, Dahl E, Flage T, Stene‐Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.

Clin Genet 1993: 44: 208–210. © Munksgaard, 1993

Two siblings who presented shortly after birth with signs of upper intestinal obstruction were successfully operated for apple peel jejunal atresia. In addition to intestinal malformations, both siblings exhibited severe microcephaly and ocular abnormalities not previously reported in this condition.
Serum lipoprotein(a) levels in elderly black and white men in the Charleston Heart Study
Authors: Knapp Rebecca G. , Schreiner Pamela J. , Sutherland Susan E. , Keil Julian E. , Gilbert Gregory E. , Klein Richard L. , Hames Curtis , Tyroler Herman A.
Published: July 2010

Knapp RG, Schreiner PJ, Sutherland SE, Keil JE, Gilbert GE, Klein RL, Hames C, Tyroler HA. Serum lipoprotein(a) levels in elderly black and white men in the Charleston Heart Study.

Clin Genet 1993: 44: 225–231. © Munksgaard, 1993

Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston Heart Study cohort, plasma Lp(a) [mg\dl] was measured on 113 white men and 83 black men. The average age of those having Lp(a) measurements was 71 years (\pm6) for white men and 72 years (\pm 9) for black men. The distribution of Lp(a) was skewed in both whites = (mean = 14.8, median = 8.2 mg\dl) and blacks (mean = 18.1, median = 12.8 mg/dl). The skewed distribution in elderly black men was in contrast to the bell‐shaped distribution commonly reported for younger blacks. The Charleston Heart Study data suggest a shift to lower values among elderly as compared to younger men, with the greatest shift occurring among the black men. For black men who have survived to the 7th, 8th, and 9th decades of life, Lp(a) levels appear to be approaching the lower levels of white men. Despite this shift in distribution among black men, there remained a statistically significant difference in Lp(a) between racial groups.
Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype
Authors: Khalifa M. M. , MacLeod P. M. , Duncan A. M. V.
Published: July 2010

Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993

A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.
Insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and myocardial infarction
Authors: Bøhn M. , Berge K. E. , Bakken A. , Erikssen J. , Berg K.
Published: July 2010

Bøhn M, Berge KE, Bakken A, Erikssen J, Berg K. Insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and myocardial infarction.

Clin Genet 1993: 44: 292–297. © Munksgaard, 1993

Male (n = 185) and female (n = 49) survivors of myocardial infarction (MI) below 56 and 61 years of age, respectively, were compared to 366 controls with respect to distribution of genotypes in an insertion/deletion (ID) polymorphism at the angiotensin I‐converting enzyme (ACE) locus. The frequency of the DD genotype (homozygosity for the deletion allele) was significantly lower among male patients than controls (22.7% versus 34.9%, p = 0.011). In a “low‐risk” group, defined as having less than the sex‐specific, age‐adjusted median values of body mass index (BMI) and apolipoprotein B (apoB), respectively, and absence of treatment with lipid‐lowering drugs, the prevalence of the DD genotype was not statistically different between male patients and controls. In a male “high‐risk” group (those individuals who had not been defined as “low‐risk” subjects), the prevalence of the DD genotype was 20.9% in patients and 38.3% in controls (p = 0.002). In women, no significant differences in genotype frequencies between patients and controls were found in the whole sample or in any subgroup. These results appear to be at variance with data reported recently by Cambien et al. (1992). The difference may be due to chance, undetected selection biases, different gene‐environment interactions between Norway and France or Ireland, or to preferential loss of DD individuals in our male “high‐risk” group.
Adenine for guanine substitution — pairs 5‘ to the apolipoprotein (APO) A4 gene: relation with hgh density lipoprotein cholesterol and APO A‐I concentrations
Authors: Civeira Fernando , Pocovi Miguel , Cenarro Ana , Garces Carmen , Ordovas Jose M.
Published: July 2010

Civeira F, Pocovi M, Cenarro A, Garces C, Ordovas JM. Adenine for guanine substitution 78 base pairs 5′ to the apolipoprotein (APO) A‐I gene: relation with high density lipoprotein cholesterol and APO A‐I concentrations.

Clin Genet 1993: 44: 307–312. © Munksgaard, 1993

A common mutation, adenine (A) for guanidine (G) substitution (G/A) has been located78 bp 5′ to the apo A‐I gene. This region has been shown to be involved in the transcriptional regulation of the apo A‐I gene. Previous studies have shown that this mutation is associated with altered high density lipoprotein cholesterol (HDL‐C) levels, although these findings have not been consistent. We have studied the frequency of this mutation in 125 subjects (60 males and 65 females) selected because they had HDL‐C levels below the 25th (low HDL) or above the 75th (high HDL) percentile of the population distribution. The presence of the mutation was detected by Msp I digestion of a 259 bp fragment of PCR amplified DNA. The allele frequency was similar in both groups (0.20 for the lowest HDL group and 0.28 for the highest HDL group, p>0.05), although a non‐significant trend was observed in a higher frequency of the A/A genotype in the highest HDL females (17.5%) vs only 6.7% in the lowest HDL female group. In conclusion, in this population the G/ A mutation was not significantly associated with HDL‐C or apo A‐I plasma levels.
Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population
Authors: Chabás A. , Castellvi S. , Bayés M. , Balcells S. , Grinberg D. , Vilageliu Ll. , Marfany G. , Lissens W. , Gonzàlez‐Duarte R.
Published: July 2010

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L1, Marfany G, Lissens W, Gonzàlez‐Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet 1993: 44: 320–323. © Munksgaard, 1993

Pseudodeficiency in arylsulphatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). Unambiguous discrimination between the two conditions cannot be achieved through conventional enzyme activity assays. A PCR method has been developed which detects the pseudodeficiency (pd) allele using a single pair of primers encompassing the mutation site and hair follicles as the source of DNA. The frequency of this allele in the Spanish population has been evaluated and correlations between different genotypes and ASA activity levels have been established. Ten out of 55 individuals were heterozygous for the ASA pd allele, while two were homozygous. The allele frequency was thus 12.7%.
Fluorescence in‐situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader‐Willi syndrome
Authors: Smith A. , Robson L. , Neumann A. , Mulcahy M. , Cbabros V. , Deng Z.‐M. , Woodage T. , Trent R. J.
Published: July 2010

A patient with classical Prader‐Willi syndrome was found to have a Robertsonian translocation 45,XY,t(13q15q)mat. On CBG banding, the translocation chromosome had a large centromere with one primary constriction. Using fluorescence in situ hybridisation, positive signals were obtained with chromosome 13 and chromosome 15 centromere probes, proving that the translocation was dicentric. NOR banding was negative in this chromosome, suggesting that the breakpoints were at 13p11 and 15p11. DNA studies showed that, while there was no deletion involving 15(q11′13), maternal uniparental disomy for chromosome 15 was present. We compare our findings with the five other cases of familial Robertsonian translocation PWS that have been reported.
Trisomy 13 (Patau syndrome) with an 11‐year survival
Authors: Zoll B. , Wolf J. , Lensing‐Hebben D. , Pruggmayer M. , Thorpe B.
Published: July 2010

Trisomy 13 is very rare in live‐born children. Only a small number of these children survive the first year and very few cases are reported to live longer. Survival time depends partly on the cytogenetic findings ‐ full trisomy 13 or trisomy 13 mosaicism ‐ and partly on the existence of serious somatic malformations. We report on a 11‐year‐old girl with full trisomy 13. In this case, missing cerebral and cardiovascular malformations probably allowed the long survival.
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis
Authors: Cavelier Lucia , Gyllensten Ulf , Dahl Nlklas
Published: July 2010

Leber hereditary optic neuropathy (LHON) has been associated with a mitochondrial mutation at position 11,778 in the ND4 gene in about 50% of families. Individuals from six Swedish families with LHON were investigated for the presence of this mutation using allele‐specific oligonucleotides and a sensitive chemoluminescent detection system. The point mutation was seen in mitochondrial DNA extracted from leukocytes in five families, four of which showed a homoplasmic pattern. One family showed a heteroplasmic pattern and one family was negative for the mutation. Six adults without impaired vision from three LHON families were detected as carriers with a degree of mutated mitochondrial DNA similar to that in affected relatives. The results show that the penetrance of LHON varies remarkably among carriers of the 11,778 mutation within families. We conclude that the prognosis for carriers should be stated cautiously when interpreting results from mutation analysis of mitochondrial DNA in leukocytes.
A case of full triploidy (69,XXX) of paternal origin with unusually long survival time
Authors: Niemann‐Seyde S. C. , Rehder H. , Zoll B.
Published: July 2010

Triploidy is a rare disorder in live‐born children and these infants generally die within the first hours after birth. We report here on a girl with full triploidy and multiple malformations, who survived for 10 weeks. The extra set of haploid chromosomes was of paternal origin, as shown by chromosomal banding techniques.
Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children
Authors: Poledne Rudolf , Pisa Zbynek , Berg Kåre
Published: July 2010

The population of Czechoslovakia is at high risk of premature atherosclerosis. Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus detectable with the restriction enzyme PvuII was analyzed in Czech children with a high or a low concentration of total serum cholesterol. The PvuII restriction site was found significantly more often in the low cholesterol group than in the high cholesterol group. Thus, normal genetic variation at the LDLR locus contributes to the population variation in cholesterol in children in the population studied.
Different clinical features in monozygotic twins: a case of 7q — syndrome
Authors: Tsukamoto H. , Inui K. , Taniike M. , Kamiyama K. , Hori M. , Sumi K. , Okada S.
Published: July 2010

We present male monozygotic twins who showed quite different clinical features. Blood chromosome analysis revealed 46, XY/46, XY, de1(7) (q32 → qter) mosaicism in both twins. However, cultured skin fibroblasts from the twins showed different karyotypes. Twin 1, with a normal phenotype, had normal chromosomes and was 46,XY. Twin 2, on the other hand, had the characteristic manifestations of 7q — syndrome and chromosomes of 46, XY, del(7) (q32 → qter). DNA fingerprint analysis of their peripheral blood samples revealed the same pattern. However, DNA fingerprint patterns of cultured skin fibroblasts and buccal mucosal cells were different when a 7q terminal marker, probe 83, was used. These identical twins with discordant phenotypes can be explained by the occurrence of twinning and simultaneous erroneous mitosis. In addition, there might be a vascular communication which probably resulted in blood exchange and chromosomal mosaicism of the lymphocytes of the monozygotic twins.
Normal immunological status in four patients with ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC‐syndrome)
Authors: Obel Niels , Hansen Birte , Black Finn Trunk
Published: July 2010

Lobster‐claw deformity of the extremities, clefting of the primary and secondary palate, ectodermal dysplasia, and atresia of the lacrimal system are common features of the ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC‐syndrome). The patients often suffer from repeated infections of eyes, upper respiratory tract and urogenital system. To exclude an immunodeficiency as cause of the infectious predisposition in patients with EEC‐syndrome, we screened the immunosystem in four related patients with EEC‐syndrome. All patients were found to present normal immunoglobulin production, complement activity, lymphocyte‐, and granulocyte function. We conclude that recurrent infections observed in the EEC‐syndrome are not caused by an immunological defect, but seem to result solely from anatomical anomalies.
Huntington's disease: predictive testing and the molecular genetics laboratory
Authors: Lazarou L. P. , Meredith A. L. , Myring J. M. , Tyler A. , Morris M. , Ball O. M. , Harper P. S.
Published: July 2010

We describe the laboratory‐related aspects of a series of 40 completed presymptomatic tests for Huntington's disease, using linked DNA markers. Pedigree structure and marker heterozygosity are shown to be important factors, both in the number of laboratory analyses required to give an informative situation and the residual uncertainty of the final estimate. Specific problems encountered by the testing laboratory are described, with possible ways of avoiding them, and the close links required between laboratory and clinical staff are emphasised.
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
Authors: Bouloux P‐M. G. , Kirk J. , Munroe P. , Duke V. , Meindl A. , Hilson A. , Grant D. , Carter N. , Betts D. , Meitinger T. , Besser G. M.
Published: July 2010

We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6–7 megabase deletion in affected males, and high resolution chromosomal G‐banding of an obligate heterozygote showed the deletion to reside in the Xp22.32 region. Affected members had X‐linked ichthyosis due to steroid sulphatase deficiency, Kallmann's syndrome, but no ocular albinism. In two out of four affected individuals studied, there was unilateral renal agenesis. Deletion analysis using the Xp22.32 markers MIC2, DXS31, DXS 89, GMGX9, DXS278, DXS143, and DXS9 showed that the deletion extended from DXS31 to DXS143 (inclusive). The absence of ocular albinism in this pedigree shows conclusively that the X‐linked ocular albinism gene resides proximal to the DXS 143 locus. Further, the inconstant association of unilateral renal agenesis with X‐linked Kallmann's syndrome, even when the latter is caused by a complete deletion of the gene, suggests that the absence of the X‐linked Kallmann gene can be compensated in renal development.
Case reports of malformations associated with maternal diabetes: history and critique
Authors: Kalter Harold
Published: July 2010

Several malformations and malformation complexes have been alleged to be associated with maternal type 1 diabetes mellitus: in particular, sacral dysplasia, caudal regression/sirenomelia, femoral dysplasia, and holoprosencephaly. For some of the malformations the claim rests on case material, and for others on theoretical considerations. The history and evolution of these ideas are presented.