Congenital ptosis, a birth defects presents at birth or by 1 year of age, is characterized by the
drooping of the upper eyelid. Either in isolation (nonsyndromic) or with many different …

Background The etiology of Chiari I malformation (CMI) has not been fully elucidated.
Therefore, we performed a genetic study of a Turkish family in which 3 sisters had a …

Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short
arm are rare and their clinical significance remains unknown. No case with sSMC (6) without …

Background Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial
trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver …

We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure
trisomy 6p22. 3→ p25. 3 encompassing BMP6 in a fetus associated with microcephaly and …

Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth
weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart …

Background Duplication of the distal part of chromosome 6p is a rare genetic syndrome.
Renal involvement has been reported in the majority of patients, including a wide range of …

The phenotype of an unbalanced translocation is characterized by the dosage effects of the
affected genes in the translocated chromosome. We present the case of a fetus with a …

Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome.
The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This …

Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth
weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart …