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Table 1 Summary of phenotypes of isolated chromosome 21 deletion patients with overlapping regions with our patient

From: Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

  Present patient Lyle case 32 Lindstrand Pt 2 Lindstrand Pt 3 Roberson GM06918 Click Shinawi Pt 3 DECIPHER 249224 # of abnormal phenotypes
intellectual disability   yes yes yes yes   yes   5
low birth weight yes   yes yes   yes    4
broad or depressed
nasal bridge
  yes    yes yes yes   4
short stature yes yes    yes     3
low anterior or posterior
hairline
  yes    yes yes    3
low set ears yes   yes    yes    3
downward slanting
palpebral fissures
   yes   yes yes    3
hypertelorism yes   yes     yes   3
congenital heart defect    yes yes   yes    3
delayed speech and
language development
    yes     yes 2
hypotonia yes yes        2
microcephaly yes yes        2
large ears   yes     yes    2
high or cleft palate   yes    yes     2
strabismus       yes yes   2
feeding difficulties    yes       1
hypertonia   yes        1
distal limbs
abnormalities
    yes      1
  1. Abnormal phenotypes are listed from the most common to least common ones