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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Ortigas A P, Stein C K, Thomson L L, Hoo J J.: Delineation of 14q32.3 deletion syndrome. J. Med. Genet. 34:515-517, 1997. [PMC free article: PMC1050980] [PubMed: 9192277]The patient was 3.9 years old.46,XX,del(14)(q32.31)The authors suggest that there is a recognisable facial gestalt. Other characteristics are small head size in comparison to body size, high forehead with lateral hypertrichosis, epicanthic folds, broad nasal bridge, high arched palate, single palmer crease, and mild to moderate developmental delay.Aberration: Terminal deletionChromosomal Aneuploidy: 14q-No band
- van Karnebeek C DM, Quik S, Sluijter S, Hulsbeek M M F, Hoovers J M N, Hennekam R C M.: Further delineation of the chromosome 14q terminal deletion syndrome. AJMG DOI=10.1002/ajmg.10207; 110:65-72, 2002. [PubMed: 12116274]46,XX,del(14)(q32.31->qter).The proband was being evaluated at the age of 9 months for general hypotonia and developmental delay.The breakpoint was located between D14S292 (deleted) and D14S985 (not deleted).Aberration: Terminal deletionChromosomal Aneuploidy: 14q-
- 14q3231 - Chromosomal Variation in Man14q3231 - Chromosomal Variation in Man
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