[Deletion 15q26 syndrome].
Katalin Szakszon1, Anikó Ujfalusi2, Erzsébet Balogh2
1Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
Orvosi Hetilap
|February 26, 2014
Summary
Chromosomal abnormalities can cause developmental issues like short stature and intellectual deficit. Array comparative genomic hybridization (array CGH) detected a 15q26.2-26.3 deletion in a child with growth failure and elevated insulin-like growth factor 1.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Short stature, microcephaly, congenital heart defects, and intellectual disability suggest chromosomal abnormalities.
- G-banded karyotyping may miss submicroscopic chromosomal changes.
Observation:
- A six-year-old girl presented with features suggestive of a chromosomal abnormality.
- Array comparative genomic hybridization (array CGH) was used to identify submicroscopic copy number variations.
Findings:
- A 4.1 Mb deletion in the 15q26.2-26.3 telomeric region was identified as the cause of the patient's symptoms.
- The patient exhibited persistent longitudinal growth failure and elevated insulin-like growth factor 1 (IGF-1) levels, indicating IGF-1 resistance.
Implications:
- Array CGH is crucial for diagnosing chromosomal abnormalities not detected by conventional karyotyping.
- Understanding genetic causes of growth failure, like 15q26.2-26.3 deletions, aids in diagnosis and management.
- Elevated IGF-1 with growth failure is a key diagnostic clue for certain genetic syndromes.
Keywords:
IGF-1-rezisztenciaIGF1 resistance toattention deficit hyperactivityfigyelemhiányos hiperaktivitásintellectual deficitmentális retardációmicrocephaliamicrocephalyMore Related Videos
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