Inherited unbalanced subtelomeric translocation in a child with 8p- and Angelman syndromes

✍ Scribed by Wenger, Sharon L.; Sell, Susan L.; Painter, Michael J.; Steele, Mark W.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 554 KB
• Volume: 70
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970516)70:2<150::aid-ajmg9>3.0.co;2-1

✦ Synopsis

A 10 1/2-month-old boy was found to have an unbalanced karyotype, 45,XY,der(8)t(8;15) (p23.3;q13). One of 83 analyzed cells also contained an unidentified small marker. Fluorescence in situ hybridization (FISH) using cosmid probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region were not present on the derived chromosome. The child had some physical findings compatible with monosomy 8p. The mother also was a balanced carrier for the translocation. She also had 2/80 cells with an additional small marker chromosome, similar in size to the extra chromosome in the one cell of the propositus. FISH using an 8 paint did not show the reciprocal exchange on the der(15) but was demonstrated by using an 8p telomeric probe. At 18 months of age the child has some manifestations of AS. Earlier diagnosis may have been masked by the 8p-phenotype, or related to difficulty in diagnosing AS in infants. Am. J. Med. Genet. 70:150-154, 1997.