摘要:

AbstractWe report on a male with Kallmann syndrome (KS) and an apparently balanced complex chromosome rearrangement (CCR): 46,XY,t(3;9)(9;12)(q13.2;q21.2p13;q15). This is the first known report of a CCR in the KS and the second reported case of a definitive autosomal chromosome abnormality with KS. Possible relationships between the cytogenetic abnormality and KS are discussed. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450502

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450503

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

年代:1993

数据来源: WILEY

摘要:

AbstractCharacteristic temporal bone changes have recently been defined by high resolution CT in nine patients with achondroplasia (Cobb et al., Am J Neuroradiol 9:1195, 1988). These included narrowing of the skull base and “;towering”; petrous ridges resulting in abnormal orientation of the inner and middle ear structures. In order to determine whether these morphologic changes are the cause of the hearing deficit in achondroplasia, audiometric studies and ENT evaluation were performed in eight of the nine patients. All had a history of frequent otitis media and four had experienced tympanic membrane tube insertion. Three patients had significant sensorineural hearing loss, two had conductive hearing loss and one patient had combined hearing loss. None of the temporal bone morphologic changes were found to be correlated with the degree of either sensorineural or conductive hearing loss. Fusion of the ossicular chain was not present in any of our cases. Appropriate treatment of frequent acute otitis media and early awareness of middle ear effusions and conductive hearing loss in children with achondroplasia may be of great importance in preventing permanent hearing loss. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450504

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on 7 patients (6 M, 1 F) with Coffin‐Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. One of the patients also had a history of premature exfoliation of primary teeth. These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin‐Lowry syndrome. Early diagnosis and recognition of a hearing deficit in the patient can lead to the use of hearing aids to help the patient achieve his or her full potential. These “;new”; clinical manifestations expand the phenotype of Coffin‐Lowry syndrome and constitute an additional indication of pleiotropy. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450505

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe present a lethal skeletal dysplasia characterized radiographically by severe stippling of the lower spine and long bones and periosteal cloaking. In contrast to the normal morphology of the epiphyses and growth plates, the marrow was filled with loose fibrous tissue containing numerous large multinucleated osteoclasts which were associated with Howship's lacunae on the endosteal surface. We suggest the term “;Pacman dysplasia”; to describe this unusual histologic change that characterizes this new bone dysplasia. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450506

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450507

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

年代:1993

数据来源: WILEY

摘要:

AbstractDNA samples from 100 patients with cleft lip with or without cleft palate (CL/P) were compared with those of 98 unaffected control individuals with respect to transforming growth factor alpha (TGFA) genotypes. Among the Caucasians in this population (83 CL/P, 84 controls), there was a significant difference in the restriction fragment length polymorphisms (RFLPs) observed after digestion with TaqI (x2= 4.68,P= 0.03). The frequency of the C2 allele in the Caucasian CL/P population was 0.169, whereas that in the control group was 0.089. When the data for Caucasians, African‐Americans, and Asians were examined jointly, thex2value for the pooled sample was 5.08 (P= 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348–353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450508

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

年代:1993

数据来源: WILEY

摘要:

AbstractDuring the course of a survey of fragile site expression in lymphocytes from twins one member of a dizygotic pair was found to be mosaic for trisomy 8. One hundred fifty metaphases from this individual were analyzed (100 treated with aphidicolin and 50 untreated); 43% were 46,XY and 57% 46,XY, +8. No differences were observed between the treated and control cultures in either the proportions of normal and trisomic metaphases or the overall or specific fragile site expression in the normal and trisomic cells. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450509

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe describe two brothers with 5,10‐methylene tetrahydrofolate reductase (MTHFR) deficiency. The younger patient first developed limb weakness, incoordination, paresthesiae, and memory lapses at age 15 years, and by his early twenties he was wheelchair bound. His older brother remains asymptomatic at age 37 years. Both had homocystinuria and homocystinemia and low plasma levels of methionine. MTHFR activities in cultured skin fibroblasts of both patients were<10% control and residual enzyme activities were markedly reduced on heating. The parents had intermediate enzyme activities and the reductase in the father (who had unexplained paraparesis and homocystinemia), but not in the mother, was also thermolabile. Both patients were treated with oral folate and betaine which improved, but did not totally correct, their biochemical abnormality. MTHFR deficiency should be considered in the differential diagnosis of unexplained neurologic disease in adolescents and adults. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450510

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a 4‐generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450511

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

年代:1993

数据来源: WILEY