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Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Abdelgadir D, Nowaczyk MJ, Li C. Abdelgadir D, et al. Am J Med Genet A. 2013 May;161A(5):1126-31. doi: 10.1002/ajmg.a.35812. Epub 2013 Mar 25. Am J Med Genet A. 2013. PMID: 23529842 Review.
Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger clinodactyly. They also had left-sided hemihyperplasia and short stature. ...In review of the literature, prenatal and postnatal …
Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger
De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.
Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM. Lin S, et al. J Paediatr Child Health. 2004 Jul;40(7):401-3. doi: 10.1111/j.1440-1754.2004.00411.x. J Paediatr Child Health. 2004. PMID: 15228573 Review.
The child also had dysmorphic features including a broad nasal bridge, telecanthus, downward slanting palpebral fissures, prominent ears, mild bilateral clinodactyly of the 5th fingers and bilateral hypoplasia of the 2nd-5th toenails. ...At the age of …
The child also had dysmorphic features including a broad nasal bridge, telecanthus, downward slanting palpebral fissures, prominent ears, mi …
A case of interstitial 1q deletion [46,XY,del(q25q32.1)].
Hamano S, Fukushima Y, Yamada T, Shimizu H, Okuyama M, Ito F, Maekawa K. Hamano S, et al. Ann Genet. 1987;30(2):105-8. Ann Genet. 1987. PMID: 3314663 Review.
Clinical features of the patient included dwarfism, severe mental retardation, microcephaly, flat nasal bridge, low-set ears, short neck, brachydactyly, clinodactyly of the 5th fingers and bilateral cryptorchidism. Comparison of phenotypic characteristics of …
Clinical features of the patient included dwarfism, severe mental retardation, microcephaly, flat nasal bridge, low-set ears, short neck, br …