摘要:

AbstractWe report on a baby with a nonreciprocal de novo unbalanced translocation between chromosomes 12 and 15. Her karyotype was 45,XX,−12, –15, +der(12)t(12;15) (pter→qter::q13→qter). The paternal origin of the 15q11‐13 region was shown by DNA marker studies and, consistent with this, the baby had the Prader‐Willi (PWS) phenotype. The breakpoint on 12q was distal to D12S11 (λMS43) which maps to 12q24.3‐qter. Fluorescent in situ hybridization using the oligonucleotides (TTAGGG)7and (AATCCC)7showed that the 12q telomere was still present within the translocated chromosome. Thus, the translocation was within or onto the end of the telomere of 12q. This unusual translocation is further evidence of an unexplained instability of the 15q11‐13 region. © 199

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470102

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

年代:1993

数据来源: WILEY

摘要:

AbstractIn the sixteenth century, a time of religious and social upheaval, naturalistic theories of generation were joined to ideas that monstrous births were divine signs. In this paper, we explore how medicine and theology were combined to explain the almost cataclysmic religious, social and political events of the century. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470103

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe have further characterized an unusual 22p+ marker chromosome with a double nucleolus organizer region (dNOR) previously identified in a family with late‐onset dementia of the Alzheimer type.G‐banding and morphology of the marker's q arm were typically normal. However, the p+ arm had a terminal cytological satellite and a GT‐positive region at the midpoint. Standard C‐banding documented 2 C‐positive regions: one was associated with the primary centromere; the other, which was at the midpoint of the p arm, was not associated with a constriction. With replication‐banding, there was a darkly staining region in the middle of the p+arm that resembled the pericentromeric region of a chromosome 21 or 22. Fluorescence in situ hybridization with pXlr 101, a probe recognizing the full repeating unit of rDNA, indicated that the marker had an unusually large rDNA region; with pU 1.2, a probe recognizing the human rDNA promoter, the signal was a doublet. The marker had 2 signals with a β‐satellite probe, and a second signal in addition to that present at the primary centromere under low stringency with α‐satellite probes and a classic satellite probe. Immunostaining of chromosome spreads after R‐banding and ultraviolet (UV) denaturation showed that the major portion of the marker's p arm was highly methylated. ©

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470104

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome IdentificationVIII(1):6–9, 1982], and David et al. [Am J Med Genet41:192–195, 1991]. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470105

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

年代:1993

数据来源: WILEY

摘要:

Abstract“Epidermal nevus syndrome” (“ENS”) is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems. We present two cases of epidermal nevus syndrome (ENS) with very different clinical findings. The first case is a newborn with multiple linear epidermal nevi of the trunk and limbs, and several other anomalies, including bony duplications of the lower limbs and hypoplastic left heart syndrome. The second patient, a 6‐year‐old boy, has a linear nevus sebaceous of the scalp with severe CNS involvement, including generalized seizures, moderate mental retardation, microcephaly, and a left hemiparesis. He also has genitourinary, cardiac, and skeletal defects. These two patients exhibit several abnormalities not previously recognized and illustrate the wide clinical spectrum of “epidermal nevus syndrome.” We present a review of the clinical findings in 74 cases of “ENS.” Correlation was noted between the presence of skin lesions located on the head and CNS involvement. The wide clinical spectrum of “ENS” as illustrated by these two patients suggests that “ENS” is a causally heterogeneous group of disord

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470106

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the effected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome “type 1.”. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470107

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities (“CMD Plus” condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the “CMD Plus” array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470108

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe present a girl with a mos45,X, −21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2) chromosome constitution. The ratio of these cells was 59/26 in phytohemagglutinin (PHA)‐ stimulated lymphocytes. The 45,X,der(21) t(Xp–;21p+) cells lacked an X inactivation center located at Xq13 on the derivative X chromosome; in these cells, the whole normal X chromosome and the distal part of Xp translocated onto the derivative chromosome 21 were early replicating. She had moderate mental retardation and other findings different from those that occur in the Ullrich‐Turner syndrome. Her phenotype may be due to the functional excess of the distal part of Xp on the derivative 21 in 45,X,der(21)t(Xp–;21p+) cells; thus, this might be another type of the “lack of X‐inactivation” syndrome. © 1993

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470109

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a 22‐week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470110

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post‐axial hexadactyly, and genital abnormalities, but a Dandy‐Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy‐Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommom combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro‐reno‐digital syndromes. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470111

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

年代:1993

数据来源: WILEY