Prenatal diagnosis of 13q– syndrome in a fetus with holoprosencephaly and thumb agenesis

Abstract

Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome.

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

“…4,13,30,[38][39][40][41][42][43][44] Thus, analysis of the precise location and size of the deletion is needed to better inform families and physicians about the clinical expectations and survival in patients with a 13q deletion.…”

Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes

“…We next extended our CGHa analysis to patients who had been reported as having 13q-syndrome which involves various partial deletions in the q22-qter region (Luo et al, 2000;Gutierrez et al, 2001;Hewson and Carter, 2002). These patients have a well-defined set of clinical phenotypes, including mental retardation, where the deletion was generally assumed to involve the terminal region of 13q, although somatic cell hybrid studies (Hawthorn and Cowell, 1995) suggested that these were, in fact, subterminal deletions.…”

Prenatal Diagnosis of a Case of Partial Monosomy^|^frasl;Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)^|^frasl;45,XX,-13 Suspected by Nuchal Fold Translucency Increasing

“…There is no specific treatment. Psychomotor retardation, usually moderate to severe, is always present [1][2][3][4][5][6][7][8][9][10][11][12]. The exact life span is unknown; the oldest patient included in the above survey was 8 years old.…”

“…The present case falls into the third category as a kind of deletion 13. Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities [1][2][3][4][5][6][7][8]. Deletions limited to proximal bands (q32) are characterized mainly by growth retardation but no major deformities.…”

“…Those involving band q32 are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features [1][2][3][4][5][6][7][8][9][10][11][12]. Monosomy 13q3 may arise as a result of a de novo deletion or may occur as a result of abnormal segregation of a parental translocation [13].…”