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Chromosome Disorders

Categorical breakdown of terms falling inder the category of Chromosome Disorders. Sub categories will become more specific in nature to the terms listed for Chromosome Disorders.

Sub-Categories

Terms

Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...

Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACR...

Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fi...

Chromosome Disorders - Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing...

Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...

De Lange Syndrome - A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitc...

Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...

Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...

Gonadal Dysgenesis, 46,XY - This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilatera...

Gonadal Dysgenesis, Mixed - A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic varia...

Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...

Jacobsen Distal 11q Deletion Syndrome - A clinically recognized malformation condition caused by a distal 11q deletion. The features of the ...

Klinefelter Syndrome - A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, s...

Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...

Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...

Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...

Sex Chromosome Disorders - Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS) i...

Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...

Turner Syndrome - A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome m...

WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...

Williams Syndrome - A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the...

Wolf-Hirschhorn Syndrome - A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in ...