PARACENTRIC INVERSION INVOLVING THE LONG ARM OF CHROMOSOME-9 RESULTING IN DELETION OF ABL GENE

Citation
Sm. Kleyman et al., PARACENTRIC INVERSION INVOLVING THE LONG ARM OF CHROMOSOME-9 RESULTING IN DELETION OF ABL GENE, American journal of medical genetics, 68(4), 1997, pp. 409-411
Citations number
16
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
68
Issue
4
Year of publication
1997
Pages
409 - 411
Database
ISI
SICI code
0148-7299(1997)68:4<409:PIITLA>2.0.ZU;2-9
Abstract
We report on a new chromosomal finding in a newborn male with hypertel orism, apparently low-set malformed ears with patent canal, micrognath ia with narrow high-arched palate, bilateral webbing of neck with low posterior hairline, widely spaced nipples, and complex heart anomalies . Initially, what appeared to be a simple paracentric inversion of the long arm of chromosome 9, that is, 46,XY, inv(9)(q31q34) by routine G TG-banding technique was later determined to be a paracentric inversio n with deletion of the band 9q34.1 by FISH technique using an abl uniq ue sequence DNA probe. Thus the cytogenetic diagnosis was modified to 46,XY,der(9) inv(9)(q31q34.1)del(q34.1). Nevertheless, the presence of telomeric repeat sequences in the inverted chromosome 9 suggests that either healing has occurred by adding [TTAGGG](n) sequences to the no ntelomeric end (q31) by the enzyme telomerase or telomeric sequences w ere not affected during this inversion process. This abnormality is a rare occurrence and has never been reported before either because of a high rate of lethality or it has been undetected by routine cytogenet ic techniques. The other abnormal cases with apparent paracentric inve rsions could also have a complex nature with congenital anomalies asso ciated with loss of ''few'' DNA sequences exemplified here. (C) 1997 W iley-Liss, Inc.