Pentazomi x karyotipli olgu sunumu
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Date
2014-12-18
Authors
Çolak, Fatma
Değirmenci, Banu
Saatçi, Çetin
Dündar, Munis
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Pentazomi X hipotonisite, gelişme geriliği, orta dereceden ağır dereceye kadar zeka geriliği, kısa boy, kraniofasiyal anomaliler ve kas-iskelet sistemi bozuklukları ile karakterize nadir görülen bir cinsiyet kromozom anöploidi bozukluğudur. Mikrosefali, hipertelorizm, upslent palpebral fissürler, düz burun kökü, mikrognati, kulak anomalileri, kısa boyun ve düşük saç çizgisi gibi kraniofasiyal anomaliler görülür. Küçük el ve ayaklar, kamptodaktili, klinodaktili yaygın bulgulardır. Ayrıca konjenital kalp defektleri, renal hipoplazi ve küçük uterus bulunabilir. Pentazomi X in prevelansı bilinmemektedir fakat literatürde şimdiye kadar yaklaşık 30 vaka tanımlanmıştır. Bu çalışmada 49,XXXXX karyotipli 6 günlük bir yenidoğanı sunduk. Vakanın fenotipik özellikleri değerlendirildi ve literatürle karşılaştırıldı.
Pentasomy X is a rare sex chromosomal aneuploidy disorder characterized by hypotonia, developmental delay, moderate to severe mental retardation, short stature, craniofacial anomalies and musculoskeletal abnormalities. The craniofacial anomalies may include microcephaly, hypertelorism, upslanting palpebral fissures, a flat nasal root, micrognathia, ear malformations and a short neck with a low hairline. Small hands and feet, camptodactyly, clinodactyly are common findings. Congenital heart defects, renal hypoplasia and small uterus may also be present. The prevelance of the pentasomy X is unknown but about 30 cases have been described in the literature so far. We report a 6 day-old newborn with a karyotype 49,XXXXX in this study. The phenotypic characteristics of the case are evaluated and comparated with the literature
Pentasomy X is a rare sex chromosomal aneuploidy disorder characterized by hypotonia, developmental delay, moderate to severe mental retardation, short stature, craniofacial anomalies and musculoskeletal abnormalities. The craniofacial anomalies may include microcephaly, hypertelorism, upslanting palpebral fissures, a flat nasal root, micrognathia, ear malformations and a short neck with a low hairline. Small hands and feet, camptodactyly, clinodactyly are common findings. Congenital heart defects, renal hypoplasia and small uterus may also be present. The prevelance of the pentasomy X is unknown but about 30 cases have been described in the literature so far. We report a 6 day-old newborn with a karyotype 49,XXXXX in this study. The phenotypic characteristics of the case are evaluated and comparated with the literature
Description
Keywords
Pentazomi X, Pentasomy X, Penta X sendromu, Pentazomi kromozom X. XXXXX., Penta X syndrome, Pentasomy chromosome X
Citation
Çolak, F. vd. (2014). "Pentazomi x karyotipli olgu sunumu " Uludağ Üniversitesi Tıp Fakültesi Dergisi, 40(3),157-159.