Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

Prenat Diagn. 2015 Dec;35(12):1265-7. doi: 10.1002/pd.4690. Epub 2015 Oct 14.

Authors

Patrick Yap^{1

2}, George McGillivray^{1

2}, Fiona Norris¹, Joanne M Said^{2

3

4}, Louise Kornman², Zornitza Stark^{1

3}

Affiliations

¹ Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
² Fetal Medicine Unit, Royal Women's Hospital, Melbourne, Australia.
³ Maternal Fetal Medicine, Sunshine Hospital, Western Health, Melbourne, Australia.
⁴ NorthWest Academic Centre, The University of Melbourne, Melbourne, Australia.

PMID: 26348998
DOI: 10.1002/pd.4690

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnostic imaging*
Adult
Chromosome Deletion
Chromosomes, Human, Pair 17 / diagnostic imaging
Female
Hernias, Diaphragmatic, Congenital / genetics*
Humans
Intellectual Disability / complications
Intellectual Disability / diagnostic imaging*
Kidney / diagnostic imaging
Pregnancy
Ultrasonography

Supplementary concepts

Chromosome 17q21.31 Deletion Syndrome