PARTIAL TRISOMY 2p24 -> pter AND MONOSOMY 18q22.1 -> pter RESULTING FROM PARENTAL TRANSLOCATION
Küçük Resim Yok
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Partial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter resulting from parental translocation: This is a report of a 6 month-old boy with a partial trisomy 2p24 -> pter and monosomy 18q22 -> qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.
Açıklama
Anahtar Kelimeler
2p partial trisomy, 18q deletion, Unbalanced translocation
Kaynak
Genetic Counseling
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
24
Sayı
2
