Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells.
Taiwan J Obstet Gynecol
; 53(4): 598-601, 2014 Dec.
Article
en En
| MEDLINE
| ID: mdl-25510708
ABSTRACT
OBJECTIVE:
Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosaicism. CASE REPORT The patient was born uneventfully at term to a healthy 34-year-old mother. Analysis of the amniotic fluid (AF) cells showed a normal male karyotype. At birth, the newborn presented dysmorphic features, including asymmetric mandibles and ears, anteverted nostrils with a relatively long philtrum, retrognathia, and a clenched hand on the left side. Imaging studies revealed agenesis of the corpus callosum with bilateral colpocephaly, a common arterial trunk bifurcating into the left subclavian and carotid arteries, and bilateral pelviectasis. Cytogenetic analysis of the blood revealed mosaicism of partial trisomy 8 47,XY,+del(8) (q21.3) [8]/46,XY [12]. Array comparative genomic hybridization (array-CGH) revealed 82.9 Mb duplications at chromosome 8p23.3-8q21.3 with dosage variations. Interphase fluorescence in situ hybridization analysis of urine sediments and buccal smears were compatible with mosaic compositions. A small colony of AF cells was found to have partial trisomy 8 in repeated analysis.CONCLUSION:
Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trisomía
/
Disomía Uniparental
/
Amniocentesis
/
Cariotipificación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Female
/
Humans
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Male
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Newborn
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Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Taiwán