نتایج جستجو برای: consanguineous marriage
تعداد نتایج: 21283 فیلتر نتایج به سال:
An 11 ~-year-old boy, born of a consanguineous marriage, had mental retardation, painful plantar and palmar keratosis, and dendritic keratitis associated with tyrosinemia, p-hydroxyphenylpyruvicaciduria, p-hydroxylaeeticaciduria, and p-hydroxyphenylaceticaciduria. Liver and renal functions were within normal ranges, and vitamin C loading did not correct the metabolic abnormalities. Maintenance ...
The patient was one of the three affected siblings, born of a second degree consanguineous marriage in a family with four children. While the eldest sister was unaffected, the patient’s second sister and a younger brother were similarly afflicted by the disease. Subsequently on a four-year follow-up, the patient developed multiple cutaneous tumors on the face simultaneously, which included a co...
Mrs ZB is a 37-year-old woman who was admitted to the gynecologic ward of the University of Maiduguri Teaching Hospital, with excessive vomiting and irregular bleeding per vaginum following amenorrhea of 13 weeks. There was no passage of vesicles, no cough. She was a fifth gravida with history of two previous molar pregnancies. There was a family history of molar gestation in two of her sibling...
The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine r...
We present two cases of 3 months old non identical twins, an outcome of a consanguineous marriage. They were delivered to an uneventful pregnancy via Caesarean Section due to twin pregnancy. They presented with, failure to thrive, feeding reflux regurgitation, developmental delay, left sided focal tonic clonic seizures since they were 7 days old. They had a past history of a chest infection, on...
A rare variant (-D-/-D-) in two generations due to consanguineous marriage was reported. The propositus (T.M., 27 years of age) delivered her second baby who suffered from severe jaundice. She had agglutinin of titer 1:64 in saline and 1:1,024 in Coomb's test against red cells of her husband (CDe/cDE). Family study revealed that T.M.'s father and his two siblings were grouped as -D-/-D-. Each o...
Although a high proportion of marriages in Asia are consanguineous (i.e. contracted between close biological relatives), with some notable exceptions, there is a death of demographic and anthropological literature on the association between consanguinity and fertility. This paper presents an overview of the prevalence of consanguineous marriages in selected South and Southeast Asian countries, ...
INDIAN PEDIATRICS 1172 VOLUME 41NOVEMBER 17, 2004 A 1-year-ten-month-old girl, first issue of a non-consanguineous marriage was referred to us for further care. The child was born full term, with birth weight of 3.5 kg. She was noticed to have polyuria, polydipsia, photophobia and failure to thrive from 6 months of age. On evaluation, she was detected to have renal insufficiency at the age of 9...
Chromosomal aberration leading to congenital malformations is an important cause for infant mortality. Forty five infants with congenital malformations affecting various systems were screened by photokaryotyping for evidence of cytogenetic abnormalities after taking thorough family and obstetric history. Among the cases multiple malformations suggestive of Down’s Syndrome was the commonest. The...
Supplementary Fig. 1. Segregation analysis in TCTEX1D2 families. Pedigree and segregation analysis in (a) family UCL82 and (b) INS, both consistent with autosomal recessive inheritance. (c) family UCL4 and (d) genomic PCRs in UCL4 of TCTEX1D2 exon 1 and exon 2 (affected by the deletion) plus exon 4 (not affected by the deletion). Children carrying the homozygous exon 1-2 TCTEX1D2 deletion are m...
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