An extra small metacentric autosome in a mentally retarded boy with multiple malformations.

نویسندگان

  • S Armendares
  • L Buentello
  • F Salamanca
چکیده

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

An extra small metacentric chromosome in a female child.

Three cases associating multiple congenital anomalies with a small extra metacentric chromosome have been reported by Fr0land, Holst, and Terelev (I963), Gustavson, Atkins, and Patricks (I964), and Taft, Dodge, and Atkins (I965). All three occurred in boys. Because this occurred in male patients only, the possibility that this extra small chromosome was associated with the X chromosome could no...

متن کامل

Partial Deletion of the Short Arms of a Chromosome of the 4-5 Group (denver).

Whereas in manjjfjspossible in the presence of an extra autosome (though not without considerable defects), absence of an autosome appears to be incompatible with life. Even absence of parts of an autosome appear, asa rule, to -be lethal and may lead to spontaneous abortions (Jacobsen, Dupont, and Mikkelsen, 1963). Grouchy, Lamy, Thieffry, Arthuis, and Salmon (263) described a child with variou...

متن کامل

Anomalies of development in a girl with unusual sex chromosomal mosaicism.

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

متن کامل

Sex Chromosomal Mosaicism

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

متن کامل

Development in a Girl with Unusual Sex Chromosomal Mosaicism

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

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 8 3  شماره 

صفحات  -

تاریخ انتشار 1971