Cyclopia syndrome with normal karyotype

Cyclopia syndrome.

To cite: Sharma D, Yadav J, Garg E. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014203535 DESCRIPTION Case A male baby with birth weight of 3.2 kg was born to primi mother at term gestation. The baby had Apgar score of 7/8/8 and at birth was diagnosed to have microcephaly, cleft palate, single eye with absence of nose. On echo the baby had ventricular septal ...

[Increased nuchal translucency with normal karyotype].

Nuchal translucency (NT) measurement in first trimester screening between 11 and 14 weeks' gestation has now been clearly identified as a marker for aneuploidies and in particular for trisomy 21. Even in the absence of aneuploidy increased fetal nuchal translucency has been shown to be a marker for fetal heart malformations and numerous other fetal defects and genetic syndromes when the measure...

Down's syndrome with an unusual karyotype.

Frequent genomic abnormalities in acute myeloid leukemia/myelodysplastic syndrome with normal karyotype.

BACKGROUND Acute myeloid leukemia is a clonal hematopoietic malignant disease; about 45-50% of cases do not have detectable chromosomal abnormalities. Here, we identified hidden genomic alterations and novel disease-related regions in normal karyotype acute myeloid leukemia/myelodysplastic syndrome samples. DESIGN AND METHODS Thirty-eight normal karyotype acute myeloid leukemia/myelodysplasti...

Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).

Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and ...