摘要:

AbstractJeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370302

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

年代:1990

数据来源: WILEY

摘要:

AbstractOf 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty‐six of 47 (55%) had definite central nervous system (CNS) malformations: arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE associatio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370303

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe analyzed 33 cases of Prader‐Willi syndrome (PWS) (including 2 personal observations) with translocations of 15q1 → qter onto the terminals of different, apparently whole chromosomes. In all but one of the 23 informative cases the translocations was de novo. Thirty of the patients were unbalanced and 27 had a 45‐chromosome constitution compatible with a 3:1 segregation. One balanced and 2 unbalanced translocations were jumping ones. The possible existence of actual non‐reciporcal translocations in man is indicated by the following considerations about these and other PWS‐associated rearrangements: (1) The observed excess of de novo translocations; (2) the relatively frequent familial occurrence ofreciprocal15q translocations; (3) the concurrence in 3 terminal translocation cases of an idic (15); (4) the visualization of jumping terminal translocations as simple transpositions rather than as successive reciprocal exchanges; (5) the predominance of true isodicentrics in PWS patients with extra inv dup(15) chromosomes; and (6) the rarity of extra derivatives resulting in 15q proximal tertiary trisomy. Additional findings in the present series were normal parental age in the de novo 45‐chromosome cases, an apparently random distribution of telomeric breakpoints, and the occurrence of different breakpoints within the

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370304

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

年代:1990

数据来源: WILEY

摘要:

AbstractCleft lip and palate were described previously in two patients with Aicardi syndrome; this report presents a third similarly affected child. Thus, facial clefts may be an occasional manifestation of Aicardi syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370305

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

年代:1990

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370306

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

年代:1990

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370307

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on a 21‐month‐old white boy with the Rothmund‐Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17+der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY,+8 and 47,XY,+i(2q). His lymphocytes had a normal 46,XY pattern.These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instab

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370308

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

年代:1990

数据来源: WILEY

摘要:

AbstractMost patients with LEOPARD syndrome (L—lentigines, E—electrocardiographic conduction defects, O—ocular hypertelorism, P—pulmonary stenosis, A—abnormalities of genitalia, R—retardation of growth, D–deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19‐year‐old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require c

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370309

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

年代:1990

数据来源: WILEY

摘要:

AbstractNeonatal hemochromatosis (NH), an uncommon and generally fatal disorder of infancy, is defined by hepatic disease of antenatal onset, generally manifest at birth, and by stainable iron in a tissue distribution like that seen in heritable adult‐onset hemochromatosis (HH). It is not known if parents and sibs of infants with NH are at risk of iron storage disease in later life. We provide 30‐year follow‐up for iron overload of a family in which 6 of 9 children died in utero or early in the neonatal period. Four of the 6 came to autopsy, where severe liver disease was found; in 3 of the 4, autopsy material could be reviewed. These 3 children had NH. Studies 30 years later did not identify HH or other iron storage disease in the parents or surviving sibs. These findings suggest that first‐degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in lat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370310

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

年代:1990

数据来源: WILEY

摘要:

AbstractA study of cerebral palsy in multiple births was undertaken to test genetic involvement and assess the impact of the special conditions of pregnancy and parturition in these cases.Complete ascertainment of cerebral palsy in multiple gestations that occurred in Western Australia between 1956 and 1985 was obtained from the Western Australian Cerebral Palsy Register. There were 74 twins and 5 triplets.Data on sex, birth order, motor handicap, outcome in co‐twins and triplets, zygosity, and pedigree information was obtained from the Register, hospital records, and, where possible, by interview of the parent(s) of the propositi.There was a significantly higher (P = 0.0026) concordance rate in MZ than in DZ twin pairs. However, pedigree studies showed no other relatives with a motor handicap similar to that of the propositi. This is consistent with a multifactorial cause in at least some of the cases.The sex ratio of affected twins was found to be 2.1 compared to 1.3 for singletons and all 5 affected triplets were boys. The trend of increasing sex ratio with increasing plurality was significant at the 1% leve

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370311

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

年代:1990

数据来源: WILEY