Results 1 -
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17
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Autosomal monosomy
- ... from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the altered chromosome in each cell ... Testing Registry: Chromosome 2q37 deletion syndrome ...
- ... leukemia. SAMD9L ... PubMed ...
- ... Distal 10q deletion syndrome Distal deletion 10q Distal monosomy 10q Monosomy 10qter Telomeric deletion 10 Terminal chromosome 10q26 deletion ...
- ... Chromosome 18 long arm deletion syndrome Chromosome 18q monosomy Chromosome 18q- syndrome Del(18q) syndrome Monosomy 18q Genetic Testing Registry: Deletion of long arm ...
- ... syndrome Deletion 22q13 syndrome Deletion 22q13.3 syndrome Monosomy 22q13 Phelan-McDermid syndrome Genetic Testing Registry: Phelan-McDermid syndrome Monosomy 22q13.3 National Organization for Rare Disorders (NORD) ...
- ... MAND. MBD5 chromosome 2 MAND is considered an autosomal dominant condition because one copy of the altered ... MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ...
- ... deletion Chromosome 3q29 deletion syndrome Microdeletion 3q29 syndrome Monosomy 3q29 Genetic Testing Registry: Chromosome 3q29 microdeletion syndrome ...
- ... syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome Monosomy 17q21.31 Genetic Testing Registry: Koolen-de Vries ...
- ... deletion syndrome Chromosome 18q deletion syndrome Chromosome 18q monosomy Chromosome 18q- syndrome Del(18q) syndrome Monosomy 18q Genetic Testing Registry: Deletion of long arm ...
- ... arm of the chromosome in each cell (partial monosomy 1p or 1q), or a circular structure called ... Map View Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C ...
