To date, 32 cases of partial 7p monosomy have been described, 14 of which have been
associated with craniosynostosis (CRS). There is considerable variation in the size and …

Pseudo-trisomy 13 is defined in chromosomally normal patients with holoprosencephaly
and associating features suggestive of trisomy 13. An autosomal recessive pattern of …

Although chromosome 18 pathology is frequent and has been known for a long time, trisomy
18p has been rarely reported. Most of the patients have either an apparently normal …

We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac
lesions and a normal karyotype. The parents were first cousins and a diagnosis of …

The phenotype of monosomy 18p varies widely, the main clinical manifestations being
mental and growth retardation, and craniofacial dysmorphism. Clinical features also include …

The combination of holoprosencephaly and ectrodactyly, also known as Hartsfield
syndrome, represents a unique genetic entity. An X‐linked recessive mode of transmission …

EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of
autosomal recessive multisystemic conditions causing severe central nervous system and …

An apparently new syndrome with mental retardation and multiple congenital anomalies,
including pachygyria, was previously reported in four individuals, three males and one …

We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral
anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We …

We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with
subtle or submicroscopic 7q36 deletions either of de novo origin or resulting from a cryptic …