We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations.
BackgroundMental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general
population (1, 2). MR is defined as a significant impairment of both cognitive (IQ <
70) and social adaptive functions, with onset before 18 years of age.ObjectivesThe purpose was to determine the results of subtelomeric screening by the Multiplex
Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with
idiopathic mental retardation (IMR) in Iran.Materials and MethodsA number of 100 patients with IMR, normal karyotypes and negative fragile-X and
metabolic tests were screened for subtelomeric abnormalities using MLPA technique.ResultsNine of 100 patients showed subtelomeric abnormalities with at least one of the two
MLPA kits. Deletion in a single region was found in 3 patients, and in two different
subtelomeric regions in 1 patient. Duplication was only single and was present in 2
patients. Three patients were found to have both a deletion and duplication.MLPA testing
in the parental samples of 7 patients which was accessible showed that 4 patients were
de novo, 2 patients had inherited from a clinically normal mother, and one had inherited
from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA
P070) proved abnormality in only five of the 9 patients.ConclusionsSo, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with
idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive
results of one of the two MLPA kits, and the lower limit representing the results of
positive double-checking with the two MLPA kits.
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.
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