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MÆDICA - a Journal of Clinical Medicine | Vol. 12, nr. 1, 2017
ISSN 1841-9038  |  e-ISSN 2069-6116
ISSN-L 1841-9038
CNCSIS - CMR - B+

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A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42

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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

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