Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation

Journal Article · Sat Jan 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490119· OSTI ID:86478

Tsuji, Kazushiro; Narahara, Kouji; Kikkawa, Kiyoshi; Murakami, Masae; Yokoyama, Yuji; Ninomiya, Shinsuke; Seino, Yoshiki ^[1]

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1. Okayama Univ. Medical School (Japan)

Craniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. The authors present a 3-year-old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14{yields}pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus. 19 refs., 5 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 86478
• Journal Information: American Journal of Medical Genetics, Vol. 49, Issue 1; Other Information: PBD: 1 Jan 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 6
CHROMOSOMAL ABERRATIONS
HUMAN CHROMOSOME 7
SKULL
CONGENITAL MALFORMATIONS