Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.
Taiwan J Obstet Gynecol
; 59(2): 318-322, 2020 Mar.
Article
en En
| MEDLINE
| ID: mdl-32127157
ABSTRACT
OBJECTIVE:
To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray analysis (CMA) to the etiological investigation of fetal upper limb reduction defects. CASE REPORT A 35-year-old woman was referred for Genetic Counseling after pregnancy termination for severe upper limb bilateral phocomelia detected in the second trimester. Fetal autopsy showed severe shortening of the arms and forearms. The fetal skeletal survey confirmed the absence of the radii, ulnae and humeri. CMA revealed an interstitial deletion in 1q21 including the RBM8A gene. Subsequent Sanger sequencing of this gene identified a hypomorphic mutant allele, c.-21G > A, confirming the diagnosis of TAR syndrome.CONCLUSION:
The differential diagnosis of upper limb defects is broad. Identification of their cause is essential for adequate genetic counseling including prognosis and recurrence risk estimation. CMA should be considered in fetuses with upper limb reduction defects, especially when the thumbs are present.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trombocitopenia
/
Deformidades Congénitas de las Extremidades Superiores
/
Ectromelia
/
Síndromes Congénitos de Insuficiencia de la Médula Ósea
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2020
Tipo del documento:
Article