A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.
We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
Stetten
G
G
Department of Gynecology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Charity
L L
LL
Kasch
L M
LM
Scott
A F
AF
Berman
C L
CL
Pressman
E
E
Blakemore
K J
KJ
D000032:Abortion, Therapeutic; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy