Characterization of a de novo balanced 1;Y translocation in a phenotypically normal twin male infant.
OBJECTIVE
To report a translocation between an autosome and the Y chromosome.


METHODS
Amniocentesis of a fetus because of mother's advanced age followed by karyotype and PCR analysis.


METHODS
Tertiary health center.


METHODS
A phenotypically normal twin male infant.


METHODS
Karyotype with G and Q banding and amplification of testis-specific protein 1-Y and of azoospermia factor (AZF) a, AZFb, AZFc, and distal AZFc regions of Y chromosome.


METHODS
Karyotype, PCR.


RESULTS
We report a phenotypically normal twin male infant with de novo 46,ChiY,t(1;Y)(p22;p11) that was found in amniocentesis. In genetic counseling, it was recommended that the fetus be monitored through a detailed prenatal ultrasonographic examination, which did not indicate any pathological findings. A phenotypically normal male baby was born who is now a 12-month-old healthy infant. The karyotype was confirmed in the peripheral blood with G and Q banding. Amplification of testis-specific protein 1-Y, AZFa, AZFb, AZFc, and distal AZFc regions of the Y chromosome did not reveal any deletions.


CONCLUSIONS
We cannot predict whether this male infant will have oligospermia or azoospermia as an adult and, furthermore, whether in case of fertility there is a risk for unbalanced autosome;Y translocations in the offspring, with congenital malformations and dysmorphic features. This case illustrates the complexities in counseling for prenatally diagnosed de novo autosome;Y translocations and the need for additional cases to be reported.
Hatzissevastou-Loukidou
Hariklia
H
First Department of Pediatrics, Hippocration General Hospital, Thessaloniki, Greece.
Kalemi
Theodora G
TG
Lambropoulos
Alexandros F
AF
Nikita
Maria
M
Sotiridou
Ellada
E
Tarlatzis
Basil C
BC
Kotsis
Alexandros
A
D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics*; D014427:Twins / Q000235:genetics*