摘要:

AbstractA pedigree is presented in which an apparently unaffected man transmitted the gene for X‐linked mental retardation to at least four of his 12 daughters. None of his 12 sons was mentally retarded. These findings may be explained by a somatic mutation and germinal mosaicism in the father or by a half chromatid mutation in maternal gamete

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020302

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

年代:1978

数据来源: WILEY

摘要:

AbstractThe “idiopathic” Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found.Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal fail

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020303

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

年代:1978

数据来源: WILEY

摘要:

AbstractIn the KOP translocation, t(X;14) (q13; q32), virtually the entire long arm of the X has been translocated to the end of the long arm of chromosome 14. Meiotic secondary nondisjunction in a female balanced carrier of the translocation has led to a son with two der(14) or 14‐X chromosomes. The normal X chromosome is late replicating in the mother. One of the two 14‐X Chromosomes is late replicating in the son, with heavy terminal labeling of all but the centromeric end of the chromosome. This suggests that genetic inactivation has spread from the Xq segment of the translocation chromosome to at least two thirds of the segment derived from chromosome 14, and that the remaining proximal segment of chromosome 14 is possibly still genetically active. These findings provide an explanation for the phenotype: Klinefelter syndrome plus a few mild malformations that are sometimes seen in this syndrome but are also seen in duplication of the proximal portion of chromosome 14. Although the proband has a duplication of virtually an entire chromosome 14, 14(pter→q32), the phenotypic effect of the autosomal duplication has been mostly nullified by the spread of inactiv

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020304

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

年代:1978

数据来源: WILEY

摘要:

AbstractA pedigree of branchio‐oto‐renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families.Branchio‐oto‐renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal invest

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020305

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

年代:1978

数据来源: WILEY

摘要:

AbstractThe last decade has witnessed increasing application of human cytogenetic technology to prenatal chromosome analysis. However, unlike the rather uniform peripheral blood T‐lymphocyte system which has provided most of our experience in human cytogenetics, long‐term amniotic‐fluid cell cultures display extreme cellular heterogeneity and disproportionate growth of certain cell types as a consequence of clonal amplification. When they enter cell culture, many of these cells are approching the terminal stages of their respective life spans and may have accumulated chromosomal aberrations. Concern about the possibility of true fetal mosaicism seems warranted chiefly in situations were multiple colonies display potentially viable aberrations. Clonal analysis, preferable of multiple clonal types, and attention to details of clonal morphology are likely to minimize diagnostic errors and undue apprehension resulting from mosaicism in amniotic‐fluid cell c

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020306

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

年代:1978

数据来源: WILEY

摘要:

AbstractWe report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020307

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

年代:1978

数据来源: WILEY

摘要:

AbstractThe Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, high‐pitched hoarse voice, and borderline intelligence or mild mental retardation. Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects. The 13 cases reported in the European literature and eight personally examined patients are reviewe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020308

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

年代:1978

数据来源: WILEY

摘要:

AbstractWe report the anatomical variations of the limbs in eight infants with the trisomy‐18 syndrome that were dissected and studied in detail. In each case, the upper limbs showed defects which further define the specific influence of this aneuploidy on the development of its preaxial (radial) component, and the tendency towards reduction defects. Abnormalities included muscle variations concentrated along the radial margin of the forearm and hand, the absence of the definitive musculocutaneous nerve in all of the limbs, and reductions of the radial artery in four of the bodies. Pathogenetic mechanisms explaining the observed defects are discussed, and include: 1) a defect in peripheral nerve development; or 2) tissue necrosis.The characteristic flexion deformities of the fingers seem to be due to a displacement of the tendons of extensors digitorum and digiti minimi.The lower limbs did not show a consistent pattern of defects, except for the absence of some muscles (psoas minor, the tendon of flexor digitorum brevis to digit V), and the presence of several supernumerary muscles. These variations are discussed as possible nonspecific effects of 18‐trisomy on development.The additional anatomical data from this and the first paper in this series [Bersu and Ramirez‐Castro, 1977] provide a more detailed picture of the trisomy‐18 phenotype which may be useful in corroborating an unconfirmed clinical diagnosis of the s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020309

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

年代:1978

数据来源: WILEY

摘要:

AbstractFourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance.The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and failure of the periumbilical skin to involute properly.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020310

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

年代:1978

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020301

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

年代:1978

数据来源: WILEY