A novel chromosomal aberration in a child with suspected Juberg-Hayward syndrome

Clin Dysmorphol. 2011 Apr;20(2):121-126. doi: 10.1097/MCD.0b013e328341679e.

Authors

Michael Berger¹, Imma Rost, Heinrich Schmidt

Affiliation

¹ Departments of Pediatric Surgery Pediatrics, Medical Genetics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich Center for Human Genetics and Laboratory Medicine, Dr Klein and Dr Rost, Martinsried, Germany Department of Surgery, University of Texas Health Science Center at Houston, Houston, Texas, USA.

PMID: 21326092
DOI: 10.1097/MCD.0b013e328341679e

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 8
Cleft Lip / diagnosis
Cleft Lip / genetics
Cleft Palate / diagnosis
Cleft Palate / genetics
Diagnosis, Differential
Female
Gastroesophageal Reflux / diagnosis
Heart Septal Defects, Atrial / diagnosis
Humans
Intellectual Disability / diagnosis
Langer-Giedion Syndrome / diagnosis
Microcephaly / diagnosis
Microcephaly / genetics
Nervous System Diseases / etiology
Orofaciodigital Syndromes
Respiratory Insufficiency / complications
Thumb / abnormalities

Supplementary concepts

Atrial septal defect 2
Chromosome 8, monosomy 8q
Juberg Hayward syndrome