A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia,
and a positive screening test for congenital adrenal hyperplasia was referred. Previous …

Trisomy 20 is one of the most often identified disorders in amniocytes, but in a postnatal
analysis is detected rather rarely. We present a girl with dysmorphic features, congenital …

The 47, XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not
associated with a characteristic physical phenotype. In the presented case, a triple-X girl …

ABSTRACT A two-year-and-eight-month-old girl presented with clitoromegaly and short
stature. Two cell lines, 45, X and 46, X, idic (Y)(q11. 2), were observed. Cytogenetic and …

We present a case of trisomy for the whole short arm of chromosome 6 in a 3‐year‐old girl
with moderate mental retardation, mild facial dysmorphism, short stature, failure to thrive …

Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from
numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause …

We report a patient with a de novo telomeric association between chromosomes 19 and Y in
conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic …

We describe a new case of mosaic trisomy 22 in a malformed newborn female who died
three month after birth. Our patient was the third child of a healthy non-cosanguineous …

ABSTRACT A diploid/triploid karyotype is an uncommon but important cause of true
hermaphroditism and ambiguous genitalia. Individuals have a recognisable phenotype and …

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal
defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone …