摘要:

Two new cases of del(2)(q37.1) and one case of partial trp(2)(q37) are studied by FISH with cosmid probes from the COL6A3 and PAX3 genes mapped in 2q37.3 and 2q36, respectively. While the PAX3 gene dosage appeared unaffected, the COL6A3 gene was found to be deleted and triplicated, respectively. This finding could explain features of connective tissue disorders such as joint laxity and hypotonia or joint stiffness and epiphyseal dysplasia, particularly documented by congenital dislocation of the radial head. Karyotype‐phenotype correlations witii reference to published cases are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03789.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Three patients with Ehlers‐Danlos syndrome type IV (EDS IV) and biochemical evidence of structural defects in collagen III were investigated for mutations within the collagen III gene (COL3A1). Single strand conformation polymorphism analysis of α1(III) cDNA indicated the presence of different heterozygous sequence changes in each of the patients. Nucleotide sequencing revealed mutations leading to the substitution of glycine 400 with glutamic acid, glycine 595 with cysteine, and glycine 1003 with aspartic acid. EDS IV is a life‐threatening disorder which, as the clinical histories of our patients and their families show, still often escapes diagnosis. Biochemical and molecular studies can clarify the diagnosis and help provide appropriate management and counsel

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03790.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Four siblings with achalasia, alacrimia and other problems involving the autonomic nervous system involvements are reported. Achalasia and alacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showed that autonomic dysfunction has progressed with age. Blood Cortisol levels were normal in all four affected children. Depending on those findings of our cases and previous reports, we conclude that triple‐A syndrome and achalasia, alacrimia with or without neurological abnormalities could be variable manifestations of the same autosomal recessive gene defec

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03791.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

A three‐generation BO family is presented: the proband showed, in addition to branchio‐oto malformations, a severe condition with growth retardation, mandibular hypoplasia and vertebral anomalies resembling the oculo‐auriculo‐vertebral (OAV) phenotype. This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represent, in some cases, an extreme component of the BOR syndrome. The finding has relevant implications for genetic counselling regarding both con

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03792.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report a new chromosomal finding in a 20‐month‐old girl. The minor clinical features included: moderate mental retardation, microcephaly, mild hypotonia and hypertelorism. Initially, what appeared to be a terminal deletion of the long arm of one chromosome 15 [15q26 → qter] was determined to be an interstitial deletion involving band 15q25 as revealed by FISH‐technique, showing the presence of intact telomeric hybridization signals. The cytogenetic diagnosis was thus modified to 46,XX, del (15) (pter → q24::q26 → qter). Nevertheless, the function of the enzyme telomerase should not be ignored, as healing could occur following such terminal deletions. Consequently, it will remain a difficult task to distinguish terminal deletions from those that are i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03793.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader‐Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the characteristic findings in Prader‐Willi syndrome. Furthermore, the deletions in the three cases do not show a consistent region of overlap. Consequently, no particular band or region in 6q can be defined as associated widi obesity. However, our findings confirm the suggestion of Villa et al. in 1995, that individuals with a PWS phenotype who are cytogenetically and molecularly negative for a deletion of 15q11‐q13 should be examined for a deletion

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03794.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Fibular dimelia with mirror foot is a rare anomaly that may be associated with additional anomalies such as ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. We report a female child with unilateral tibial aplasia, ipsilateral duplication of fibula and calcaneus, and mirror Polydactyly of the foot without associated abnormalities.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03795.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03796.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22‐p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent region

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03797.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb03798.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY