E
E Hatchwell
Researcher at Princess Anne Hospital
Publications - 5
Citations - 1199
E Hatchwell is an academic researcher from Princess Anne Hospital. The author has contributed to research in topics: Autosome & Chromosomal translocation. The author has an hindex of 4, co-authored 5 publications receiving 1141 citations.
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Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
TL;DR: It is argued here that the phenotype in cases of Hypomelanosis of Ito results not from the interruption of X linked genes but from the presence of mosaic functional disomy of X sequences above the breakpoint.
Journal ArticleDOI
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.
TL;DR: It is argued that the major likely factor is partial functional disomy of sequences on Xp in cell lineages that have failed to inactivate the intact X chromosome.
Journal ArticleDOI
Mirror hands and feet: a further case of Laurin-Sandrow syndrome.
E Hatchwell,N Dennis +1 more
TL;DR: A girl with mirror hands and feet and associated groove of the nasal columella is reported, which represents only the sixth reported case of this spectrum of congenital anomalies.
Journal ArticleDOI
Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
TL;DR: A reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family is reported, in which the proband was originally referred because of short stature and a webbed neck but further investigations showed she had mental retardation and a congenital heart defect.