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Characterization of a de novo balanced 1;Y translocation in a phenotypically normal twin male infant
Hariklia Hatzissevastou-Loukidou1, Theodora G Kalemi, Alexandros F Lambropoulos
1First Department of Pediatrics, Hippocration General Hospital, Thessaloniki, Greece.
Objective:
To report a translocation between an autosome and the Y chromosome.
Design:
Amniocentesis of a fetus because of mother's advanced age followed by karyotype and PCR analysis.
Setting:
Tertiary health center.
Patient(S):
A phenotypically normal twin male infant.
Intervention(S):
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.
Main Outcome Measure(S):
Karyotype, PCR.
Result(S):
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.
Conclusion(S):
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.
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