chromosome 11q duplication syndrome

Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National… (More)

We report a newborn male with multiple congenital anomalies including growth retardation, hypotonia, dysmorphic facies, widely… (More)

Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about… (More)

In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M… (More)

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in… (More)

We report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent-1 segregation of a balanced reciprocal… (More)

This 3 mos old boy was found to have a karyotype of 46,XY,-18, +t(11;18)(q23;q23). His mother had a balanced reciprocal trans… (More)