A case with pentasomy x

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 literatur

PARTIAL TRISOMY 14q DUE TO MATERNAL t(4;14)(p16;q32) IN A DYSMORPHIC NEWBORN

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn: Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32)