Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).
Ann Genet
; 40(1): 45-54, 1997.
Article
in En
| MEDLINE
| ID: mdl-9150850
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 12
/
Intellectual Disability
/
Mosaicism
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Ann Genet
Year:
1997
Document type:
Article
Affiliation country:
France