摘要:

AbstractWe describe a new anthropometric index, the “auriculocephalic index.” It results from the ratio between the length of auricle and the corresponding preauricular head height. The index is independent of sex and of age. Normally it ranges between 0.25 (−2s) and 0.33 (+2s). In syndrome delineation it may help to diagnose more precisely large or small auricles as phenogenetic variants. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed. © 1995 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractA male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur‐Fibula dysostosis syndrome with or without splenogonadal fusion. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y‐specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich‐Turner‐like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe major manifestations of the Bardet‐Biedl syndrome are digital anomalies, tapetoretinal degeneration, obesity, renal abnormalities, and hypogenitalism (described mainly in males). We report on 2 girls with Bardet‐Biedl syndrome who also had vaginal atresia. A similar association in females with Bardet‐Biedl syndrome was suggested in published reports of 11 affected individuals who had structural genital abnormalities, (some of which were missed in childhood), including persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries and fallopian tubes, uterus duplex, and septate vagina. The association of atresia of the vagina and other malformations of female genital structures in individuals with Bardet‐Biedl syndrome has often been missed in childhood and should be looked for more systematically. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants with short rib‐polydactyly syndrome (SRPS). Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death after birth were noted in the first affected male baby. The affected female twins were detected prenatally by ultrasonography and had the same characteristics, but milder than the previous one. Serial measurements of the thoracic circumference and the 4 limbs were obtained by ultrasound, and showed progressively decreased ratio of thoracic to abdominal circumference and shortness of the limbs. The last male baby also had a similar but variable expression in prenatal ultrasonography. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractGenital abnormalities have been noted in several patients with the X‐linked form of α‐thalassemia and mental retardation syndrome (ATR‐X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism. © 1995 Wiley‐

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe hallmarks of the X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of α‐thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 previously unreported cases and analyse the phenotypic and hematologic findings in these subjects and compare them with previously published cases. This study demonstrates the consistency of the main characteristics of this syndrome and extends the phenotype. Developmental changes in phenotype, in particular the coarsening of the facial appearance, are illustrated. The hematologic findings are shown to vary widely; in some cases the manifestation of α‐thalassemia may be subtle and missed without repeated examination. © 1995 Wi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe report a new kindred containing 4 patients with X‐linked α‐thalassemia/mental retardation syndrome ((ATR‐X). Like previously reported ATR‐X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies including hemoglobin electrophoresis, but the three living patients all had hemoglobin H inclusions on brilliant cresyl blue stained peripheral smears. The combination of skewed X‐inactivation and haplotype analysis at Xq12‐q21.3 confirmed carrier status in the 3 obligate carriers in the kindred and led to identification of an additional carrier. Two other women in the kindred appear to be noncarriers on the basis of normal X‐inactivation and/or inheritance of a different Xq12‐21.3 haplotype. More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR‐X and/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR‐X. ©

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY