Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.
Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3-pter monosomy and 6q25.2-qter trisomy.
Cavani
S
S
Laboratorio di Genetica Umana, EO Ospedali Galliera, Genova, Italy.
Perfumo
C
C
Faravelli
F
F
Malacarne
M
M
Sogliani
M
M
Piombo
G
G
Zerega
G
G
Zucca
M
M
Dagna Bricarelli
F
F
Pierluigi
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D005190:Family; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications / Q000175:diagnosis*; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D013687:Telencephalon / Q000002:abnormalities*; D014178:Translocation, Genetic