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13q22.1-q32.1 Microdeletion Syndrome

  • Ming-Wei Li
  • Xin-Yi Zou
  • Chao-Chun Zou
Scientific Letter
  • 22 Downloads

To the Editor: Interstitial deletion of the long arm of chromosome 13 is characterized by multisystemic anomalies. 13q22.1-q32.1 microdeletion belongs to 13q32 proximal deletion (group 1 of 13q deletion) [1] with clinical manifestations including short stature, mental retardation, special facial features and other moderate abnormalities [2].

A 4-y-old girl was referred to our hospital because of growth retardation. She was born at 38 wk of gestation without asphyxia. Her body weight was 9.8 kg (<P3) and height was 91.8 cm (<P3). Flat and long face, sparse hair, low hairline, small mandible, hypertelorism, epicanthus, broad and flat nasal bridge, low-set and large ears and hypoplastic 5th finger were noted (Fig.  1a, b). She could not hop or speak long sentences with a low WISC score of 65. Chromosomal microarray showed a 23 Mb deletion in 13q22.1-q32.1 with 38 genes missing (UCSC Genome Browser on Human 2009, Fig. 1c, d). Liver, kidney and thyroid function, TORCH-Ig, abdominal and...

Notes

Acknowledgements

We thank the parents for allowing us to use the data.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

This project is supported by Zhejiang Provincial Natural Science Foundation (LR13H090002) and Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents (2016).

References

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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Children’s HospitalZhejiang University School of MedicineHangzhouChina
  2. 2.Zhejiang University School of MedicineHangzhouChina
  3. 3.School of Medicine of Zhejiang University City CollegeHangzhouChina

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