title: Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).
abstract: The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.
authors.affiliation: Unité de Génétique Clinique, Hôpital Nord, CHRU, Amiens, France.
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: C
authors.initials: C
authors.lastname: Piussan
authors.forename: F
authors.initials: F
authors.lastname: Thepot
authors.forename: A
authors.initials: A
authors.lastname: Gouget
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: J M
authors.initials: JM
authors.lastname: Pedespan
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: D
authors.initials: D
authors.lastname: Fontan
authors.forename: M
authors.initials: M
authors.lastname: Ruffie
authors.forename: A
authors.initials: A
authors.lastname: Nivelon-Chevallier
authors.forename: F
authors.initials: F
authors.lastname: Amblard
authors.forename: P
authors.initials: P
authors.lastname: Chauveau
authors.forename: H
authors.initials: H
authors.lastname: Moirot
authors.forename: J P
authors.initials: JP
authors.lastname: Chabrolle
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: M
authors.initials: M
authors.lastname: Teyssier
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: M C
authors.initials: MC
authors.lastname: Pelissier
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: C
authors.initials: C
authors.lastname: Turc-Carel
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: M
authors.initials: M
authors.lastname: Gonzales
authors.forename: H
authors.initials: H
authors.lastname: Journel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D005145:Face / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011296:Prenatal Diagnosis; D013577:Syndrome