title: The most encountered groups of genetic disorders in Giza Governorate, Egypt.
abstract: This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care centers (PHCCs) in Giza Governorate; Neonatal intensive care unit (NICU) in the selected hospitals and Outpatients Human Genetics Clinics (NRC). 62819 persons visited the outpatients clinics of selected hospitals and PHCCs in Giza governorate. Out of these persons 731 cases (1.16%) proved to have known genetic disorders or malformations. 7755 neonates were delivered in the selected hospitals. Out of these neonates 666 newborns entered NICU and 3% (20 neonates) of them had genetic or congenital disorders. Also, 2686 patients were ascertained from the Human Genetics Clinics, NRC. The overall parental consanguinity rate among the 3417 diagnosed cases was 55%, ranging from 29.5-75%. The study showed a high prevalence of genetic/malformation disorders among Egyptians, with frequencies comparable to other Arab populations (Tab. 4, Ref. 25). Full Text (Free, PDF) www.bmj.sk.
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. hhafifi@hotmail.com
authors.forename: H H
authors.initials: HH
authors.lastname: Afifi
authors.forename: M O
authors.initials: MO
authors.lastname: El-Ruby
authors.forename: H T
authors.initials: HT
authors.lastname: El-Bassyouni
authors.forename: S I
authors.initials: SI
authors.lastname: Ismail
authors.forename: M S
authors.initials: MS
authors.lastname: Aglan
authors.forename: A A
authors.initials: AA
authors.lastname: El-Harouni
authors.forename: I M
authors.initials: IM
authors.lastname: Mazen
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
authors.forename: R I
authors.initials: RI
authors.lastname: Bassiouni
authors.forename: L A
authors.initials: LA
authors.lastname: Hosny
authors.forename: G Y
authors.initials: GY
authors.lastname: El-Kamah
authors.forename: A I
authors.initials: AI
authors.lastname: El-Kotoury
authors.forename: A M
authors.initials: AM
authors.lastname: Ashour
authors.forename: G M
authors.initials: GM
authors.lastname: Abdel-Salam
authors.forename: M A
authors.initials: MA
authors.lastname: El-Gammal
authors.forename: K
authors.initials: K
authors.lastname: Hamed
authors.forename: R M
authors.initials: RM
authors.lastname: Kamal
authors.forename: I
authors.initials: I
authors.lastname: El-Nekhely
authors.forename: S A
authors.initials: SA
authors.lastname: Temtamy
mesh_terms: D002648:Child; D000013:Congenital Abnormalities / Q000453:epidemiology*; D003241:Consanguinity; D004534:Egypt / Q000453:epidemiology; D030342:Genetic Diseases, Inborn / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D015995:Prevalence