Meirer-gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype

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dc.contributor.authorPaksoy, B.
dc.contributor.authorSılan, Fatma
dc.contributor.authorYildiz, O.
dc.contributor.authorOzdemir, O.
dc.contributor.authorTas, Z.T.
dc.date.accessioned2025-01-27T19:05:53Z
dc.date.available2025-01-27T19:05:53Z
dc.date.issued2016
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractMeirer-Gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.
dc.identifier.endpage163
dc.identifier.issn1015-8146
dc.identifier.issue2
dc.identifier.pmid29485260
dc.identifier.scopus2-s2.0-85016218451
dc.identifier.scopusqualityN/A
dc.identifier.startpage159
dc.identifier.urihttps://hdl.handle.net/20.500.12428/14026
dc.identifier.volume27
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherEditions Medecine et Hygiene
dc.relation.ispartofGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_Scopus_20250125
dc.subjectEar; Meirer-gorlin syndrome; Mental retardation; Patella; Short stature syndrome
dc.titleMeirer-gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype
dc.typeArticle

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