Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

American Journal of Medical Genetics. Part a
Andreas TzschachVera M Kalscheuer

Abstract

Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12-year-old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion.

References

Jul 1, 1992·American Journal of Medical Genetics·S LoboM E Pierpont
Mar 1, 1988·Journal of Medical Genetics·M A MoriM L Martinez-Frias
Jun 1, 1987·Human Genetics·G GloverJ A López Ballester
Jan 1, 1985·American Journal of Medical Genetics·S D ShapiroC M Moore

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Citations

Nov 24, 2016·Ophthalmic Genetics·Egle PreiksaitieneVaidutis Kučinskas
Apr 1, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ting-Ying LeiCan Liao
Nov 24, 2020·Acta Neuropathologica·Tam T QuachAnne-Marie Duchemin

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