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1.

Chromosome 17q11.2 deletion syndrome, 1.4Mb

Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). [from OMIM]

MedGen UID:
1726802
Concept ID:
C5401456
Disease or Syndrome
2.

Subcutaneous neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region). [from HPO]

MedGen UID:
741742
Concept ID:
C1827970
Neoplastic Process

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