De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.
OBJECTIVE
We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional imbalance to the inherited rearrangement.


METHODS
DNA microarray was used to screen for genomic imbalance in subtelomeric and interstitial critical regions. High-resolution comparative genomic hybridization was used to screen for genomic imbalance at a genome-wide level. Fluorescence in situ hybridization using whole-chromosome painting and specific probes was used to characterize the inherited translocation, and the size of the de novoadditional deletion.


RESULTS
An unexpected additional deletion was found in 7qter on derivative 10 of the inherited maternal reciprocal translocation t(7;10)(q11.23; p14).


CONCLUSIONS
We show the usefulness of genome-wide and specific molecular cytogenetic techniques to explore apparently balanced rearrangements.
Delahaye
A
A
Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, AP-HP, Bondy, France.
Pipiras
E
E
Kanafani
S
S
Touboul
C
C
Vergnaud
A
A
Encha-Razavi
F
F
Sinico
M
M
Benkhalifa
M
M
Kasakyan
S
S
Serero
S
S
Wolf
J P
JP
Gérard-Blanluet
M
M
Benzacken
B
B
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D022981:Allelic Imbalance; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D020223:Chromosome Painting; D003388:Cranial Fossa, Posterior / Q000002:abnormalities* / Q000473:pathology; D020732:Cytogenetic Analysis; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016615:Telomere; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal