Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Amal M MohamedAlaa K KamelMaha M EidOla M EidMona MekkawyShymaa H HusseinMaha S ZakiSamira EsmailHanan H AfifiGhada Y El-KamahGhada A OtaifyHeba Ahmed El-AwadyAya ElaidyMahmoud Y EssaMona El-RubyEngy A AshaatSaida A HammadInas MazenGhada M H Abdel-SalamMona AglanSamia TemtamyPublished in: Molecular genetics & genomic medicine (2021)
The gene deletion in the 9p24 region was insufficient to cause ambiguous genitalia because six of the nine patients had normal genitalia. We suggest that the critical region for trigonocephaly lies between 11,575 and 11,587 Mb from the chromosome 9p terminus. To the best of our knowledge, this is the minimal critical region reported for trigonocephaly in 9p deletion syndrome, and it warrants further delineation.