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1.
Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.
Redha, A A; Murthy, D S; Kandil, H; Farag, T I; Usha, R; al-Awadi, S A; Jeryan, L A; al-Nagdy, K; el-Ghanem, M.
Indian J Pediatr ; 61(3): 301-6, 1994.
Article in English | MEDLINE | ID: mdl-7960007

Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 8 , Intellectual Disability/genetics , Trisomy , Child, Preschool , Humans , Male
2.
Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis.
Naguib, K K; Sundareshan, T S; Bahar, A M; Al-Awadi, S A; Jeryan, L A; Hamdan, M R.
Fertil Steril ; 49(5): 917-9, 1988 May.
Article in English | MEDLINE | ID: mdl-3360183

ABSTRACT

We report on an Arab family in which a mother and two of her daughters, despite having deletion Xq25, are fertile. So far, only one case of deletion Xq25 associated with fertility has been reported. Consistent inactivation of the deleted X chromosome in the proposita and early menopause in the mother were noted. The effect of Xq deletion on fertility and the CRH is discussed.


Subject(s)
Chromosome Deletion , Fertility , Sex Chromosome Aberrations/genetics , X Chromosome , Adult , Chromosome Banding , Female , Humans , Infertility, Female/genetics , Karyotyping , Middle Aged
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