Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

نویسندگان

  • G F Smith
  • S Sachdeva
  • N Janakiraman
  • S N Sinha
چکیده

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas Genetiskt Arkiv, 67, 89-102. Ferguson-Smith, M. A., Boyd, E., Ferguson-Smith, M. E., Pritchard, J. G., Yusuf, A. F. M., and Gray, B. (1969). Isochromosome for the long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X/46,XYqi). J'ournal of Medical Genetics, 6, 422-425. Jacobs, P. A. and Ross, A. (1966). Structural abnormalities of the Y chromosome in man. Nature, 210, 352-354. Robinson, J. A. and Buckton, K. E. (1971). Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma 35, 342-352.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Chromosomal Abnormalities in Regions 8q22 and 13q32 Associated with Different Disorders in an Iranian Family

Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...

متن کامل

Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies

Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...

متن کامل

P-94: Male Infertility in China: Laboratory Finding for AZF Microdeletions and Chromosomal Abnormalities in Infertile Men from Northeastern China

Background: To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world. Materials and Methods: 305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. M...

متن کامل

The Importance of Examining Congenital Hypothyroidism in Connection with Congenital Heart Disease: Letter to Editor

Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism. As we know, one of the most commonly associated congenital hypothyroidism disorders is congenital heart disease, which has a significant effect on the recovery of pat...

متن کامل

Cytogenetic Analysis of Referral Cases with Growth Failure and Clinical Suspicion of having Chromosomal Abnormality

  Background and Objective: Failure to thrive (FTT) is a sign that describes a particular problem rather than a diagnosis and explain growth failure or more advanced failure to gain weight appropriately. The aim of this study was to determine the prevalence and type of chromosomal abnormalities in patients presented with FTT. Materials and Method: One hundred FTT cases with clinical impressio...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 11 4  شماره 

صفحات  -

تاریخ انتشار 1974