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Results: 1 to 20 of 558

1.

Maternal 14q32.2 microdeletion syndrome

2.

Paternal 14q32.2 microdeletion syndrome

3.

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion

4.

Chromosome 17p deletion

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. [from MONDO]

5.

Partial deletion of the short arm of chromosome 9

6.

Partial autosomal deletion

7.

Partial autosomal duplication/triplication

8.

Partial trisomy/tetrasomy of chromosome 5

9.

Partial trisomy/tetrasomy of chromosome 18

A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18. [from MONDO]

10.

Partial trisomy/tetrasomy of chromosome 9

11.

Prader-Willi syndrome due to paternal 15q11q13 deletion

12.

Beckwith-Wiedemann syndrome due to 11p15 microduplication

13.

Total autosomal trisomy

14.

Familial monosomy 7 syndrome

A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor. [from ORDO]

15.

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

16.

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

17.

Silver-Russell syndrome due to 11p15 microduplication

18.

Prader-Willi syndrome due to translocation

19.

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

20.

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Results: 1 to 20 of 558

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