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Updated: Aug 9, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome
Abstract:
A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands, brachymetaphalangy, short second fingers, broad thumbs, short metatarsal bones, and unusually big first toes. It seems almost certain that the syndrome was caused by a chromosome deletion involving about half of 12p which was present in all of the lymphocytes examined.
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