Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.
The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somite dysplasia. We report on a 22-year-old woman with bicornuate uterus, right renal agenesis, C2-C3 vertebral fusion (MURCS association) and 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries with a dermoid cyst in the right ovary and mild osteoporosis were also diagnosed. Accurate revision of radiographs enabled us also to identify thoracolumbar and lumbosacral vertebral-differentiation defects. Audiometry and echocardiogram were normal. Bone densitometry showed osteoporosis. As per our evaluation, the patient had short stature, obesity (BMI 30.7) and facial features suggestive of the 22q11 deletion syndrome. Multiplex ligation-dependent probe amplification analysis showed a de-novo 22q11.2 deletion confirmed by array-comparative genomic hybridization analysis. We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome.
Uliana
Vera
V
Medical Genetics, Department of Molecular Biology Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, University of Siena, Siena Department of Endocrinology, University of Pisa, Pisa Medical Genetics, Hospital of reggio Calabria, Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Giordano
Nicola
N
Caselli
Rossella
R
Papa
Filomena Tiziana
FT
Ariani
Francesca
F
Marcocci
Claudio
C
Gianetti
Elena
E
Martini
Giuseppe
G
Papakostas
Panagiotis
P
Rollo
Fabio
F
Meloni
Ilaria
I
Mari
Francesca
F
Priolo
Manuela
M
Renieri
Alessandra
A
Nuti
Ranuccio
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D013577:Syndrome