نتایج جستجو برای: consanguineous marriage

تعداد نتایج: 21283  

2006
L. A. Goldsmith E. Kang D. C. Bienfang K. Jimbow

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 ...

Journal: :Indian journal of dermatology, venereology and leprology 2007
Meenal R Patil Vishalakshi Vishwanath Manoj Arya B P Shenoy R N Bharmal R G Torsekar

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...

2015

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...

Journal: :Cases Journal 2008
Asok K Datta Syamali Mandal Anindya Dasgupta Tarun K Ghosh

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...

2015

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...

Journal: :The Tohoku journal of experimental medicine 1982
K Sagisaka T Yokoi M Yamashina H Tanaka H Matsumoto

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...

Journal: :Journal of health, population, and nutrition 2004
Rafat Hussain Alan H Bittles

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, ...

Journal: :Indian pediatrics 2004
P Anil Kumar G Subramanyam

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...

2015
Ramachandra Rao Vishnu Bhat

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...

2015
Miriam Schmidts Yuqing Hou Claudio R. Cortés Dorus A. Mans Celine Huber Karsten Boldt Mitali Patel Jeroen van Reeuwijk Jean-Marc Plaza Sylvia E. C. van Beersum Zhi Min Yap Stef J. F. Letteboer S. Paige Taylor Warren Herridge Colin A. Johnson Peter J. Scambler Marius Ueffing Hulya Kayserili Deborah Krakow Stephen M. King Philip L. Beales Lihadh Al-Gazali Carol Wicking Valerie Cormier-Daire Ronald Roepman Hannah M. Mitchison George B. Witman Saeed Al-Turki Carl Anderson Richard Anney Dinu Antony Jennifer Asimit Mohammad Ayub Jeff Barrett Inês Barroso Jamie Bentham Shoumo Bhattacharya Douglas Blackwood Martin Bobrow Elena Bochukova Patrick Bolton Chris Boustred Gerome Breen Marie-Jo Brion Andrew Brown Mattia Calissano Keren Carss Krishna Chatterjee Lu Chen Sebhattin Cirak Peter Clapham Gail Clement Guy Coates David Collier Catherine Cosgrove Tony Cox Nick Craddock Lucy Crooks Sarah Curran Allan Daly Petr Danecek George Davey Smith Aaron Day-Williams Ian Day Richard Durbin Sarah Edkins Peter Ellis David Evans I. Sadaf Farooqi Ghazaleh Fatemifar David Fitzpatrick Paul Flicek Jamie Floyd A. Reghan Foley Chris Franklin Marta Futema Louise Gallagher Tom Gaunt Daniel Geschwind Celia Greenwood Detelina Grozeva Xiaosen Guo Hugh Gurling Deborah Hart Audrey Hendricks Peter Holmans Jie Huang Steve E. Humphries Matt Hurles Pirro Hysi David Jackson Yalda Jamshidi David Jewell Joyce Chris Jane Kaye Thomas Keane John Kemp Karen Kennedy Alastair Kent Anja Kolb-Kokocinski Genevieve Lachance Cordelia Langford Irene Lee Rui Li Yingrui Li Liu Ryan Jouko Lönnqvist Margarida Lopes Daniel G. MacArthur Mangino Massimo Jonathan Marchini John Maslen Shane McCarthy Peter McGuffin Andrew McIntosh Andrew McKechanie Andrew McQuillin Yasin Memari Sarah Metrustry Josine Min Alireza Moayyeri James Morris Dawn Muddyman Francesco Muntoni Kate Northstone Michael O'Donovan Stephen O'Rahilly Alexandros Onoufriadis Karim Oualkacha Michael Owen Aarno Palotie Kalliope Panoutsopoulou Victoria Parker Jeremy Parr Lavinia Paternoster Tiina Paunio Felicity Payne John Perry Olli Pietilainen Vincent Plagnol Michael A. Quail Lydia Quaye Lucy Raymond Karola Rehnström J. Brent Richards Sue Ring Graham R S Ritchie David B. Savage Nadia Schoenmakers Robert K. Semple Eva Serra Hashem Shihab So-Youn Shin David Skuse Kerrin Small Carol Smee Artigas María Soler Nicole Soranzo Lorraine Southam Tim Spector Beate St Pourcain David St. Clair Jim Stalker Gabriela Surdulescu Jaana Suvisaari Ioanna Tachmazidou Jing Tian Nic Timpson Martin Tobin Ana Valdes Margriet van Kogelenberg Parthiban Vijayarangakannan Louise Wain Klaudia Walter Jun Wang Kirsten Ward Ellie Wheeler Ros Whittall Hywel Williams Kathy Williamson Scott G. Wilson Kim Wong Tamieka Whyte Xu ChangJiang Eleftheria Zeggini Feng Zhang Hou-Feng Zheng

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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