Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods We investigated a cohort of nine patients wi...
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Wiley
2021
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oai:doaj.org-article:2bfe665e28c74ca3b3ab3b493e122b7b2021-11-21T19:38:53ZChromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly2324-926910.1002/mgg3.1829https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b2021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1829https://doaj.org/toc/2324-9269Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods We investigated a cohort of nine patients with chromosome 9p terminal deletions who all displayed developmental delay, intellectual disability, hypotonia, and dysmorphic features. Of them, eight had trigonocephaly, seven had brain anomalies, seven had autistic manifestations, seven had fair hair, and six had a congenital heart defect (CHD). Results Karyotyping revealed 9p terminal deletion in all patients, and patients 8 and 9 had additional duplication of other chromosomal segments. We used six bacterial artificial chromosome (BAC) clones that could identify the breakpoints at 17–20 Mb from the 9p terminus. Array CGH identified the precise extent of the deletion in six patients; the deleted regions ranged from 16 to 18.8 Mb in four patients, patient 8 had an 11.58 Mb deletion and patient 9 had a 2.3 Mb deletion. Conclusion 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.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 TemtamyWileyarticle9p deletionambiguous genitaliaautismbrain anomaliestrigonocephalyGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021) |
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9p deletion ambiguous genitalia autism brain anomalies trigonocephaly Genetics QH426-470 |
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9p deletion ambiguous genitalia autism brain anomalies trigonocephaly Genetics QH426-470 Amal M. Mohamed Alaa K. Kamel Maha M. Eid Ola M. Eid Mona Mekkawy Shymaa H. Hussein Maha S. Zaki Samira Esmail Hanan H. Afifi Ghada Y. El‐Kamah Ghada A. Otaify Heba Ahmed El‐Awady Aya Elaidy Mahmoud Y. Essa Mona El‐Ruby Engy A. Ashaat Saida A. Hammad Inas Mazen Ghada M. H. Abdel‐Salam Mona Aglan Samia Temtamy Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| description |
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods We investigated a cohort of nine patients with chromosome 9p terminal deletions who all displayed developmental delay, intellectual disability, hypotonia, and dysmorphic features. Of them, eight had trigonocephaly, seven had brain anomalies, seven had autistic manifestations, seven had fair hair, and six had a congenital heart defect (CHD). Results Karyotyping revealed 9p terminal deletion in all patients, and patients 8 and 9 had additional duplication of other chromosomal segments. We used six bacterial artificial chromosome (BAC) clones that could identify the breakpoints at 17–20 Mb from the 9p terminus. Array CGH identified the precise extent of the deletion in six patients; the deleted regions ranged from 16 to 18.8 Mb in four patients, patient 8 had an 11.58 Mb deletion and patient 9 had a 2.3 Mb deletion. Conclusion 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. |
| format |
article |
| author |
Amal M. Mohamed Alaa K. Kamel Maha M. Eid Ola M. Eid Mona Mekkawy Shymaa H. Hussein Maha S. Zaki Samira Esmail Hanan H. Afifi Ghada Y. El‐Kamah Ghada A. Otaify Heba Ahmed El‐Awady Aya Elaidy Mahmoud Y. Essa Mona El‐Ruby Engy A. Ashaat Saida A. Hammad Inas Mazen Ghada M. H. Abdel‐Salam Mona Aglan Samia Temtamy |
| author_facet |
Amal M. Mohamed Alaa K. Kamel Maha M. Eid Ola M. Eid Mona Mekkawy Shymaa H. Hussein Maha S. Zaki Samira Esmail Hanan H. Afifi Ghada Y. El‐Kamah Ghada A. Otaify Heba Ahmed El‐Awady Aya Elaidy Mahmoud Y. Essa Mona El‐Ruby Engy A. Ashaat Saida A. Hammad Inas Mazen Ghada M. H. Abdel‐Salam Mona Aglan Samia Temtamy |
| author_sort |
Amal M. Mohamed |
| title |
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| title_short |
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| title_full |
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| title_fullStr |
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| title_full_unstemmed |
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly |
| title_sort |
chromosome 9p terminal deletion in nine egyptian patients and narrowing of the critical region for trigonocephaly |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b |
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