ISSN:0148-7299    

DOI:10.1002/ajmg.1320140402

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140403

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on two half‐sibs, a male and a female with dup(13)(q1405 → qter) that resulted from a der(15),t(13;15)(15qter → 15q25::13q1405 → 13qter), h +, pat. Their manifestations were similar to those with duplication of the distal half 13q. The father was a balanced de novo translocation carrier. Since the der(15) had a long secondary constriction, it was possible to trace the site of the mutation to the germ cell of the patients paternal grandmother who had this distinctive long secondary constriction in one of her normal 15 chro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140404

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report a man who had the branchio‐oto‐renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so‐called Potter syndrome.This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha‐fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possiblity of lethal bilateral renal a

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140405

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report a paracentric inversion of 1p in a boy with mild mental retardation. The chromosome aberration was identified by high resolution chromosome banding, and was also present in his phenotypically normal mother and other relatives. The boy's karyotype was considered to be 46,XY,inv(1) (p31,2 p36.22) ISCN (1981).

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140406

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a kindred in which an ins(10;8)(q21;q212q22) chromosome rearrangement has been segregating for at least four generations. The risk for balanced carriers to have offspring with duplication of 8q212→8q22 is about 0.31. Individuals with unbalanced chromosomes are mildly to moderately mentally retarded and have a similar unusual appearance. Other manifestations include highly arched or cleft palate (8/9), micrognathia (6/9), sloped shoulders (4–6/9), convulsions (4/9), camptodactyly (3/9), pectus excavatum (2/9), elbow contractures (1/9), and postaxial polydactyly (1/9). The appearance and habitus resemble the mosaic trisomy 8 syndrome, although other anomalies of mosaic trisomy 8, such as vertebral, patellar, and renal defects, were not demonstra

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140407

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

年代:1983

数据来源: WILEY

摘要:

AbstractA white girl presented at age 16 yr with delayed puberty and primary amenorrhea. She had 46 chromosomes with a de novo reciprocal X;9 translocation. The normal X chromosome was found to be heterochromatic, thus preserving the function of the translocation portion of the 9. Her total estrogen and serum estradiol levels were low and her serum follicle‐stimulating hormone (FSH) and luteinizing hormone (LH) levels were at the lower end of the normal adult range. She had a reasonably good FSH and LH response to GnRH, but an inadequate response to 100 mg of clomiphene daily for 1 wk. This would suggest that the abnormality of function is probably hypothalamic, a hitherto unreported association.De novo translocations between X chromosomes and autosomes are rare and none identical to this case has been described. The breakpoint of the X chromosome was at p22, well outside the “critical region” for female reproductive function. It seems probable that her chromosome abnormality is responsible for her clinical

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140408

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

年代:1983

数据来源: WILEY

摘要:

AbstractCongenital polyvalvular disease (CPVD) is seen in trisorny 18 and other aneuploidy syndromes. However, its extent and nature have not been studied. Gross pathologic and histologic aspects of the heart were studied in 15 autopsied cases of trisomy 18. All had CPVD; other congenital defects included membranous ventricular septal defect (87%), patent ductus arteriosus (73%), and high takeoff of the right coronary ostium (80%). With a scoring system, histologic findings of the valves of all trisomy 18 cases were compared with those of 30 normal hearts of comparable age in order to determine the degree of morphologic abnormality. This included the presence of blood cysts, derangement of the spongiosa and fibrosa, vascular degeneration of the spongiosa, and defective elastic fibers. There were distinct differences between the changes seen in CPVD with trisomy 18 syndrome and those seen in the normal individuals. The most severe changes were present in the tricuspid and mitral valves with derangement of the spongiosa and fibrosa and defective elastic fibers. The valve tissue had a similar histologic appearance and structure to that of low birth weight infants (gestational age, 25 weeks). The valvular changes observed therefore are of fetal type and represent errors in tissue differentiation occurring as last as the third trimester.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140409

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

年代:1983

数据来源: WILEY

摘要:

AbstractA sample of 354 individuals with sickle cell anemia ascertained in the city of Rio de Janeiro was studied to investigate the relationships between Hb F level, morbidity, and mortality. The mean Hb F level was 6.41 ± 5.21%. The relationship between age and the proportion of Hb F can be described as a quadratic polynomial distribution, the level falling from approximately 11% in the first year to 4% at 25 years and then rising proportionally after 30 years. The correlations between Hb F level and 140 variables, including hematological values, signs and symptoms of the disease, as well as therapeutic requirements, showed that the patients with high Hb F levels are less anemic and have a more benign course. Several significant correlations (between amount of Hb F and the following clinical signs: pallor of mucous membranes, jaundice, cholelithiasis, leg ulcers, bronchial asthma, increased pulmonary vascularity, left ventricular hypertrophy, and osteomyelitis) are being reported here for the first time

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140410

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

年代:1983

数据来源: WILEY

摘要:

AbstractTwo stillborn sisters had characteristics of both agnathia and holoprosencephaly. Familial occurrence implies that agnathia‐holoprosencephaly may be determined by a single recessive gene, something to be taken into account when counseling such families. Evidence from human experience and various animal models suggests that agnathia‐holoprosencephaly represents a causally heterogeneous single developmental field defect. Anatomical studies of these two stillborn sisters support the view that they shared a developmental field defect which affected structures in the face, cranial cavity, and upper neck. The pathogenesis of these variably expressed defects probably relates to defects in neural crest cells of cranial origin and/or to underlying mesodermal support elements of these ce

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140411

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

年代:1983

数据来源: WILEY