Deletions of the long arm of chromosome 6 are relatively uncommon and to date minimal
genotype–phenotype correlations have been observed. We report on three unrelated …

Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation
syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart …

Dup (6p) patients have a peculiar facial appearance (frontal bossing, hypotelorism,
hypoplastic midface), low birthweight, cardiovascular defects, small kidneys, and …

Here we report on a 13‐year‐old boy who had an interstitial deletion of the long arm of
chromosome 8 [46, XY, del (8)(pter→ q23. 3:: q24. 13→ qter)]. He had the facial features of …

Only few cases with an interstitial deletion of chromosome 14 have been described so far.
We report on a 21‐month‐old girl with an interstitial deletion of the long arm of chromosome …

Chromosome aberrations, mendelian mutations and exogenous agents can cause
holoprosencephaly. Therefore, etiologic evaluation of holoprosencephaly is necessary for …

An infant with holoprosencephaly and a karyotype 46, XY, r (21) is reported. No distinctive
craniofacial features suggesting holoprosencephaly were present in this infant who …

The proximal chromosome 11p contiguous gene deletion syndrome (P11pDS), also known
as Potocki-Shaffer syndrome (PSS) or DEFECT 11 (OMIM 601224), is a disorder associated …

We evaluated an infant because holoprosencephaly had been detected by prenatal
ultrasound examination and magnetic resonance imaging (MRI). Postnatally, high …

We report on a 12 year-old boy presenting with severe developmental delay, dysmorphic
features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum …