THE SOMATIC CHROMOSOMAL CONSTITUTION OF SOME HUMAN SUBJECTS WITH GENETIC DEFECTS
نویسندگان
چکیده
منابع مشابه
Diagnosis of genetic defects by chromosomal analysis.
Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were detected very early in life. Mean age at the ti...
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توسیع تعدادی از نامساوی های چند جمله ای در مشتق قطبی
15 صفحه اولGenetic, chromosomal, and syndromic causes of neural tube defects
OBJECTIVE To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. METHODS We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital,...
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The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the ...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1959
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.45.7.1008