... chromosome 7 ... inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur ...

... are unknown. When an affected child inherits a chromosomal deletion from a parent, it is ... 2q37 microdeletion syndrome Albright hereditary osteodystrophy-like syndrome ...

... Gene: NRG2 ... but results from the deletion of a chromosomal segment during the formation of reproductive cells (eggs ...

... chromosome 10 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered chromosome in each cell is sufficient to cause the disorder.This condition may be inherited or occur as a result of a new chromosomal change. In some cases, an affected person inherits ...

... affected person's cells. Researchers believe that these chromosomal changes arise because of the overall instability of an affected person's genetic information; they do not cause the disorder. RECQL4 This condition is inherited in an autosomal recessive pattern, which means both copies of the ...

... study. RAI1 chromosome ... cases of Potocki-Lupski syndrome result from a new (de novo) chromosomal duplication and occur in people with no history ...

... Brody myopathy Brody myopathy National ... Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B. Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in ...

... gene, males are affected by X-linked recessive disorders much more frequently than ... Congenital ocular ...

... area where the 200-kb deletion occurs. The chromosomal change related to 1q21.1 microdeletion is often called the recurrent distal ... which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in ...

... inherited. If the condition is caused by a chromosomal abnormality, it may ... is inherited in an autosomal dominant pattern, which means one copy of an ...