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A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42
Ali VAHABI, Filiz HAZAN and Isa Abdi RAD
ABSTRACT
We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and posteriorly rotated ears, long philtrum, anteverted nares, retrognathia and unilateral undescended testis. Chromosomal analysis revealed partial monosomy of 9p24 associated with partial trisomy of 1q42→qter.
Keywords: 9p deletion, trisomy of 1q42, mental retardation, microcephaly, trigonocephaly