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Table 1 Clinical Feature of Patients With Deletion in 81.6–88.9mb on Chromosome 10

From: Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

Patient 1 2 3 4 5 6 7 8 9 10
Short staure* + +
Developmental delay + + + + + + + + +
Austism + +
Speech delay + NA + + + + +
OFC P97 P97 NA NA NA Macrocephaly P10 P2 P84 P50
Cardiac defect NA NA PDA AVSD
Reference Balciuniene et al. [2007] Balciuniene et al. [2007] Alliman et al. [2010] Alliman et al. [2010] Alliman et al. [2010] Alliman et al. [2010] Van Bon et al. [2011] Van Bon et al. [2011] Van Bon et al. [2011] Our case
Dysmorphsims and congenital anomalies Minor features Ventricular structural abnormalities Micrognathia
High-arched palate
Thin upper lip
Wide spaced eyes
Arachnodactyly
Joint hyperextensibility
Hypotonia
High palate
Wide spaced eyes
earlobe creases
Prognathic mandible
Rectal bleeding
Clubfeet
Hearing loss
Wide spaced eyes
Low set ears
Mild hypotonia
Small ears
Wide spaced eyes
Small mouth
Retrognathia
Mild hypotonia
Ptosis
Low set small ears
Hypotelorism
Broad thumbs
Broad halluxes
Breast aplasia
Telecanthus
Low set ears
Hypertelorism
Antervered nares
Flat nasal bridge
Large mouth
Low set ears
Hypertelorism
Radioulnar synostosis
Scoliosis
Kyphosis
Pectus excavatum
Café-au-lait spots
Clubfeet
Low set ears
Flat nasal bridge
Wide spaced eyes
Adenoid hypertrophy
  1. AVSD atrial ventricular septal defect, OFC occipito-frontal circumference, PDA patent ductus arteriosus
  2. *Short stature: < 10th centile