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Dominantly inherited microcephaly, short stature and normal intelligence

โœ Scribed by Raoul C. M. Hannekam; Aat van Rhijn; F. A. M. Hannekam


Book ID
115091350
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
442 KB
Volume
41
Category
Article
ISSN
0009-9163

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A dominantly inherited syndrome (microce
โœ Rossella Vivarelli; Orsetta Zuffardi; Paola Maraschio; Cecilia Anichini; R. Scar ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› Springer ๐ŸŒ English โš– 303 KB

A complex balanced three-break-point rearrangement between chromosome 2 and chromosome 7 and a balanced reciprocal translocation between chromosome 5 and chromosome 20, were found associated in a girl and in her mother and grandmother. All three of them have microcephaly, low stature, peculiar asymm