[Syndrome of congenital malformations and dysmorphic features in a newborn with partial trisomy 16q due to maternal translocation t(9;16)(p24;q13)].
A newborn with multiple congenital malformations and a pattern of dysmorphic features (microcephaly, uneven skull surface, exophthalmos, periorbital oedema, clefting of primary and secondary palates, camptodactylia of hands and feet, patent arterial duct, thoracic and spinal malformations, ambiguous external genitals) is described. Partial trisomy of chromosome 16q due to maternal reciprocal translocation t(9;16)(p24;q13) was detected. The risk for the next pregnancy was estimated to be low (below 2.6%).
Luberda-Zapaśnik
J
J
Wojewódzki Specjalistyczny Szpital Dzieciecy w Olsztynie.
Midro
A T
AT
Szwałkiewicz-Warowicka
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy
Zespół wad wrodzonych i cech dysmorficznych u noworodka z cześciowa trisomia 16q na skutek matczynej translokacji t(9;16)(p24;q13).