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Holoprosencephaly deletion 2p

MedGen UID:
441187
•Concept ID:
CN072875
•
Disease or Syndrome

Authors:
Cedrik Tekendo-Ngongang  |  Maximilian Muenke  |  Paul Kruszka   view full author information

Recent clinical studies

Diagnosis

Prenatal detection of cyclopia associated with interstitial deletion of 2p.
Grundy HO, Niemeyer P, Rupani MK, Ward VF, Wassman ER
Am J Med Genet 1989 Oct;34(2):268-70. doi: 10.1002/ajmg.1320340231. PMID: 2817010

Prognosis

Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.
Mallick S, Panda SS, Ray R, Shukla R, Kabra M, Agarwal R
BMJ Case Rep 2014 Mar 13;2014 doi: 10.1136/bcr-2014-203597. PMID: 24626384Free PMC Article

Clinical prediction guides

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.
Münke M, Emanuel BS, Zackai EH
Am J Med Genet 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409. PMID: 3055987

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