SELECT ISSUE

ISSN-L 1841-9038

HIGHLIGHTS
Tema plagiatului este tot mai mult discutata in ultima vreme. Aparitia unor programe performante de cautare si identificare a similitudinilor intre texte [...]
Committe on Publication Ethics
A forum for responsible and ethical research publishing – Code of Conduct and Best Practice Guidelines for Journal Editors.
Members Area
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