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Titolo:
Congenital anomalies and anthropometry of 42 individuals with deletions ofchromosome 18q
Autore:
Cody, JD; Ghidoni, PD; DuPont, BR; Hale, DE; Hilsenbeck, SG; Stratton, RF; Hoffman, DS; Muller, S; Schaub, RL; Leach, RJ; Kaye, CI;
Indirizzi:
Univ Texas, Hlth Sci Ctr, Dept Pediat, San Antonio, TX 78284 USA Univ Texas San Antonio TX USA 78284 ept Pediat, San Antonio, TX 78284 USA Univ Texas, Hlth Sci Ctr, Dept Cellular & Struct Biol, San Antonio, TX 78284 USA Univ Texas San Antonio TX USA 78284 truct Biol, San Antonio, TX 78284 USA Univ Texas, Hlth Sci Ctr, Dept Pathol, San Antonio, TX 78284 USA Univ Texas San Antonio TX USA 78284 ept Pathol, San Antonio, TX 78284 USA Univ Texas, Hlth Sci Ctr, Dept Med, San Antonio, TX 78284 USA Univ Texas San Antonio TX USA 78284 , Dept Med, San Antonio, TX 78284 USA Univ Texas, Hlth Sci Ctr, Dept Otolaryngol, San Antonio, TX 78284 USA UnivTexas San Antonio TX USA 78284 tolaryngol, San Antonio, TX 78284 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 85, anno: 1999,
pagine: 455 - 462
SICI:
0148-7299(19990827)85:5<455:CAAAO4>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
HAPLOINSUFFICIENCY;
Keywords:
chromosome 18q deletion; mental retardation; neurological disorders; dysmyelination; chromosome abnormalities;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Kaye, CI Univ Texas, Hlth Sci Ctr, Dept Pediat, 7703 Floyd Curl Dr, San Antonio, TX78284 USA Univ Texas 7703 Floyd Curl Dr San Antonio TX USA 78284 X78284 USA
Citazione:
J.D. Cody et al., "Congenital anomalies and anthropometry of 42 individuals with deletions ofchromosome 18q", AM J MED G, 85(5), 1999, pp. 455-462

Abstract

Deletions of chromosome 18q are among the most common segmental aneusomiescompatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Here we report the physical findings in these individuals. We have compared our findings with those of previously reported cases and have found a significantly different incidence of several minor anomalies in our subjects. We also describe here several anomalies not previously reported in individuals with deletions of 18q, including short frenulum, short palpebral fissures, disproportionate short stature, overlap of second and third toes, and a prominent abdominal venous pattern. Characteristics found in subjects were analyzed for correlation with cytogenetic breakpoints. Several traits were found to correlate with the extent of the deletion. Large deletions were associated with significantly decreased head circumference and ear length as well as the presence of proximally placed and/or anomalous thumbs. Individuals with the smallest deletionswere more likely to have metatarsus adductus. Although relatively few genotype/phenotype correlations were apparent, these data demonstrate that correlations with breakpoint are possible. This implies that more correlations will become evident when the more precise molecularly based genotyping is completed. These correlations will identify critical regions on the chromosome in which genes responsible for specific abnormal phenotypes are located. (C) 1999 Wiley-Liss, Inc.

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Documento generato il 25/01/20 alle ore 06:27:13