Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)

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 altog...

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Published inAnnales de génétique Vol. 40; no. 1; p. 45
Main Authors Mathieu, M, Piussan, C, Thepot, F, Gouget, A, Lacombe, D, Pedespan, J M, Serville, F, Fontan, D, Ruffie, M, Nivelon-Chevallier, A, Amblard, F, Chauveau, P, Moirot, H, Chabrolle, J P, Croquette, M F, Teyssier, M, Plauchu, H, Pelissier, M C, Gilgenkrantz, S, Turc-Carel, C, Turleau, C, Prieur, M, Le Merrer, M, Gonzales, M, Journel, H
Format Journal Article
LanguageEnglish
Published Netherlands 1997
Subjects
Abnormalities, Multiple - genetics
Adolescent
Adult
Child
Child, Preschool
Chromosomes, Human, Pair 12
Face - abnormalities
Female
Fetal Diseases - genetics
Humans
Hypotrichosis - genetics
Intellectual Disability - genetics
Karyotyping
Male
Mosaicism
Prenatal Diagnosis
Syndrome
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Summary: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.
ISSN:0003-3995