title: Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.
abstract: We report a semilobar holoprosencephaly (HPE) in a post-intracytoplasmic-sperm-injection pregnancy. It was suggested by ultrasonography (US), documented on karyotype, identified with magnetic resonance imaging (MRI), established after birth and confirmed on post-mortem autopsy. An amniocentesis revealed a de novo apparently balanced reciprocal translocation 46,XY, t(7;8) (q31.3;q12). Fluorescence in situ hybridization (FISH) identified a deletion in the region of the Sonic Hedgehog gene (SHH) on der(8); nevertheless, the subtelomeric regions for chromosomes 7 and 8 were present. The parents decided to continue the pregnancy; a boy was born and survived for 3 days. The brain autopsy confirmed the semilobar HPE previously noted on US and MRI. Further, band-specific FISH revealed, in addition to SHH deletion, the presence of an inversion in the 7q translocated material on der(8). The parents' karyotypes were normal. An unexpected complex rearrangement was present in a de novo apparently balanced reciprocal translocation in a semilobar HPE.
authors.affiliation: Service d'Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction, Hôpital Jean Verdier, AP-HP, Bondy, France.
authors.forename: S
authors.initials: S
authors.lastname: Kanafani
authors.forename: A
authors.initials: A
authors.lastname: Aboura
authors.forename: E
authors.initials: E
authors.lastname: Pipiras
authors.forename: L
authors.initials: L
authors.lastname: Carbillon
authors.forename: A C
authors.initials: AC
authors.lastname: Tabet
authors.forename: C
authors.initials: C
authors.lastname: Largillière
authors.forename: C
authors.initials: C
authors.lastname: Garel
authors.forename: P
authors.initials: P
authors.lastname: Gressens
authors.forename: M
authors.initials: M
authors.lastname: Bucourt
authors.forename: I
authors.initials: I
authors.lastname: Cedrin-Durnerin
authors.forename: E
authors.initials: E
authors.lastname: Lachassinne
authors.forename: C
authors.initials: C
authors.lastname: Roumegoux
authors.forename: M
authors.initials: M
authors.lastname: Uzan
authors.forename: J N
authors.initials: JN
authors.lastname: Hugues
authors.forename: J P
authors.initials: JP
authors.lastname: Wolf
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
mesh_terms: D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D017809:Fatal Outcome; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human