We studied 16 cases of 8p duplications, with a karyotype 46, XX or XY, dup (8p), associated
with mental retardation, facial dysmorphisms, and brain defects. We demonstrate that these …

We studied X‐chromosome inactivation patterns in blood cells from normal females in three
age groups: neonates (umbilical cord blood), 25–32 years old (young women group) and> …

Background—Cytogenetic evidence suggests that the haploinsufficiency of≥ 1 gene
located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading …

Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant
disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large …

Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a
malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic …

We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR)
syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st …

A female child with mild dysmorphisms, motor and mental retardation had a 45, XX,-8,-8,+
psu dic (8)(p23. 3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid …

We report on the association of a gastric carcinoma and a constitutional deletion of the short
arm of chromosome 18 in a 14-year-old patient. The phenotype of the patient, including …

We report a case of Ph-positive chronic myelocytic leukemia in blastic phase in an 11-year-
old boy with Down syndrome. Monosomy 7 was the only additional chromosomal anomaly …

Haemophagocytic lymphohistiocytosis (HLH) is a severe disorder of early infancy consistent
with an autosomal recessive inheritance. Neither the genetic locus nor the biochemical …