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A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2009-01-01)
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2009-01-01)
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case ...
A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2014)
A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome
(WILEY-LISS, 2010)
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...
Cell lines derived from hippocampal neurons of the normal and trisomy 16 mouse fetus (a model for Down syndrome) exhibit neuronal markers, cholinergic function, and functional neurotransmitter receptors
(Academic Press Inc., 2002)
We have established hippocampal cell lines from normal and trisomy 16 fetal mice, a model of human trisomy 21. Both cell lines, named H1b (derived from a normal animal) and HTk (trisomic) possess neuronal markers by ...
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
(Elsevier Science BvAmsterdamHolanda, 2013)
Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes
(Wiley-Blackwell, 2008-10-15)
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched ...