Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate
Küçük Resim Yok
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation,, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.
Açıklama
WOS: 000252605500007
PubMed: 18286822
PubMed: 18286822
Anahtar Kelimeler
1q trisomy, duplication of 1q, unbalanced translocation of 1q
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
18
Sayı
4
