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Trisomy 9q—. A variant of the 9p trisomy syndrome

✍ Scribed by Willard R. Centerwall; Carol A. Mayeski; Chul C. Cha

Publisher: Springer
Year: 1975
Tongue: English
Weight: 525 KB
Volume: 29
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00430345

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✦ Synopsis

A low-birth-weight near-term male infant was found to have a non-familial 47,X¥ chromosome complement with an extra medimn-sized metacentrie chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately half of the long arm at region q 22. Chromosome studies on the clinically normal 38-year-old mother showed a balanced translocation with the deleted portion attached onto the distal end of a number 8 short arm, i.e. 46,XX,t(8 ; 9)(p23 ; @2). Nondisjunction during meiosis of this woman's normal and deleted number 9 chromosomes is the basis of the child's abnormalities. One half-sibling of the child has a balanced translocation similar to that in the mother. Chromosome analyses on 4 others of the child's maternal half-siblings and on the maternal grandmother all showed normal patterns.

These include a prominent nose, deformed low-set ears, down-turned mouth, micrognathia, eye slant, small head size, 5th finger clinodaetyly, digit and nail hypoplasia, abnormal dermatoglyphics and retarded growth and development.

There is also a clear-cut resemblance to cases reported with short arm, partial short arm and total chromosome 9 trisomies (Centerwall, 1975).

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