Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Autor:	Hammou HA; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Sennaoui M; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Bouzid F; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Dafir K; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Qabli ME; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Akallakh H; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Mansouri M; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco., Maoulainine FMR; Faculty of Medicine and Pharmacy, University of Cadi Ayyad, Marrakech, Morocco.; Neonatal Intensive Care Unit, Mother and Child Hospital, Mohammed VI University Hospital Center of Marrakech, Morocco., Bouskraoui M; Faculty of Medicine and Pharmacy, University of Cadi Ayyad, Marrakech, Morocco.; Pediatric A department, Mother and Child Hospital, Mohammed VI University Hospital, Center of Marrakech, Morocco., Aboussair N; Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco.; Faculty of Medicine and Pharmacy, University of Cadi Ayyad, Marrakech, Morocco.
Jazyk:	angličtina
Zdroj:	African health sciences [Afr Health Sci] 2023 Dec; Vol. 23 (4), pp. 575-581.
DOI:	10.4314/ahs.v23i4.60
Abstrakt:	The objective of this work was to identify phenotypic features and cytogenetic aspects of trisomy 13 in Moroccan population. The retrospective study was conducted on a group of 9 cases diagnosed cytogenetically with trisomy 13. The study of sex ratio showed a slight female dominance in our group of cases. The major clinical findings included: Holoprosencephaly, microphthalmia and anophthalmia, coloboma of iris, cleft lip and palate, nasal and ear abnormalities, retrognathism and sloping forehead, polydactyly, capillary hemangiomas, omphalocele, congenital heart defect, renal abnormalities, cryptorchidism, language delay. The cytogenetic study showed the dominance of the free and homogeneous trisomy 13 (56%). Patients who have this formula are dead at an early age (does not exceed one month). However, each of the chromosomal formula, trisomy 13 by translocation and partial trisomy 13 t (13;18), was found in 20% of our patients. The partial trisomy 13 t (13;18) is the only variant that is still alive and the patients with this anomaly suffer mainly from renal and cardiac anomalies with slight dysmorphia and psychomotor retardation. Our study shows the interest of the cytogenetic analysis in the diagnosis accuracy and in the genetic counseling of patients with Patau syndrome and their parents. (© 2023 Hammou HA et al.)
Databáze:	MEDLINE
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