Retrospective diagnosis of Pallister-Killian syndrome by CGH array.
OBJECTIVE
We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy.


CONCLUSIONS
We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.
Delahaye
Andrée
A
Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France.
Pipiras
Eva
E
Delorme-Vincent
Catherine
C
Benkhalifa
Moncef
M
Kasakyan
Serdar
S
Devisme
Louise
L
Wolf
Jean-Philippe
JP
Benzacken
Brigitte
B
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D000782:Aneuploidy; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome