PMID- 34504729
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220902
IS  - 2146-4596 (Print)
IS  - 2146-460X (Electronic)
IS  - 2146-460X (Linking)
VI  - 10
IP  - 3
DP  - 2021 Sep
TI  - 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum.
PG  - 239-244
LID - 10.1055/s-0040-1713673 [doi]
AB  - 17p13.3 microduplication syndrome has been associated with a clinical spectrum of 
      phenotypes, and depending on the genes involved in the microduplication, it is 
      categorized into two classes (Class I and Class II). We herein, describe two 
      patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) 
      assay and further confirmed by fluorescence in situ hybridization (FISH). Our 
      patients (Patient 1: 4-year-old male; Patient 2: 2-year-old male) presented with 
      developmental delay, intellectual disability, and dysmorphic facial features. 
      When compared with the literature, our patients manifested distinctive features 
      (Patient 1: primary hypothyroidism; Patient 2: bilateral cryptorchidism) that 
      were not previously described in the duplication 17p13.3 spectrum.
CI  - Thieme. All rights reserved.
FAU - Farra, Chantal
AU  - Farra C
AD  - Department of Pathology and Laboratory Medicine, Division of Medical Genetics, 
      American University of Beirut Medical Center, Beirut, Lebanon.
FAU - Abdouni, Lina
AU  - Abdouni L
AD  - Department of Pathology and Laboratory Medicine, Division of Medical Genetics, 
      American University of Beirut Medical Center, Beirut, Lebanon.
FAU - Hani, Abeer
AU  - Hani A
AD  - Department of Pediatrics and Internal Medicine, Lebanese American University, 
      Beirut, Lebanon.
FAU - Dirani, Leyla
AU  - Dirani L
AD  - Department of Psychiatry, American University of Beirut Medical Center, Beirut, 
      Lebanon.
FAU - Hamdar, Layal
AU  - Hamdar L
AD  - Department of Obstetrics and Gynecology, American University of Beirut Medical 
      Center, Beirut, Lebanon.
FAU - Souaid, Mirna
AU  - Souaid M
AD  - Department of Pathology and Laboratory Medicine, Division of Medical Genetics, 
      American University of Beirut Medical Center, Beirut, Lebanon.
FAU - Awwad, Johnny
AU  - Awwad J
AD  - Department of Obstetrics and Gynecology, American University of Beirut Medical 
      Center, Beirut, Lebanon.
LA  - eng
PT  - Case Reports
DEP - 20200720
PL  - Germany
TA  - J Pediatr Genet
JT  - Journal of pediatric genetics
JID - 101589859
PMC - PMC8416230
OTO - NOTNLM
OT  - 17p13.3 microduplications
OT  - developmental delay
OT  - dysmorphic features
COIS- Conflict of Interest None declared.
EDAT- 2021/09/11 06:00
MHDA- 2021/09/11 06:01
PMCR- 2022/09/01
CRDT- 2021/09/10 07:02
PHST- 2019/10/09 00:00 [received]
PHST- 2020/05/05 00:00 [accepted]
PHST- 2021/09/10 07:02 [entrez]
PHST- 2021/09/11 06:00 [pubmed]
PHST- 2021/09/11 06:01 [medline]
PHST- 2022/09/01 00:00 [pmc-release]
AID - 1900089 [pii]
AID - 10.1055/s-0040-1713673 [doi]
PST - ppublish
SO  - J Pediatr Genet. 2021 Sep;10(3):239-244. doi: 10.1055/s-0040-1713673. Epub 2020 
      Jul 20.