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Partial deletion of the short arm of chromosome 16

MedGen UID:
1825967
Concept ID:
C5679670
Cell or Molecular Dysfunction
Synonyms: Partial deletion of chromosome 16p; partial deletion of chromosome 16p; partial deletion of the short arm of chromosome 16; partial deletion of the short arm of chromosome type 16; Partial monosomy of chromosome 16p; partial monosomy of chromosome 16p; Partial monosomy of the short arm of chromosome 16; partial monosomy of the short arm of chromosome 16
 
Monarch Initiative: MONDO:0016894
Orphanet: ORPHA261956

Recent clinical studies

Etiology

Abgral M, Bouvattier C, Senat MV, Bouchghoul H
J Gynecol Obstet Hum Reprod 2024 Sep;53(7):102781. Epub 2024 Mar 30 doi: 10.1016/j.jogoh.2024.102781. PMID: 38561025

Diagnosis

Abgral M, Bouvattier C, Senat MV, Bouchghoul H
J Gynecol Obstet Hum Reprod 2024 Sep;53(7):102781. Epub 2024 Mar 30 doi: 10.1016/j.jogoh.2024.102781. PMID: 38561025

Clinical prediction guides

Verdorfer I, Hobisch A, Hittmair A, Duba HC, Bartsch G, Utermann G, Erdel M
Cancer Genet Cytogenet 1999 May;111(1):61-70. doi: 10.1016/s0165-4608(98)00217-9. PMID: 10326593

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    Genetic Testing Registry

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