We would also like to present the consequences of having an additional microdeletion (1p21.3), which was absent in the patient but present in her mother and maternal half-brother, both of whom had the 15q11.2 microdeletion. [cureus.com]

• Fishing

  In such cases, FISH or array-CGH studies may be necessary to detect the deletions It is important to note that a child’s development and future is not only influenced by the chromosome material duplicated/deleted and genes involved, but also by other [dovemed.com]

  Fluorescent in situ hybridization (FISH) assay was also done on the patient and family members. However, the results were inconclusive. An electroencephalogram (EEG) was also conducted on the patient and showed no seizure activity. [cureus.com]

• Feeding Difficulties

  difficulties, use of feeding tubes (temporary nasogastric or gastrostomy tubes), medications, feed thickeners, bottle-feeding expressed milk, including special diets and nutritional supplements Surgical correction of physical defects, as assessed by [dovemed.com]

• Tachypnea

  According to her past medical records, she presented with grunting and tachypnea at birth. She continued to grunt despite 30% oxygen therapy, which subsided after three hours. Her group B streptococcus testing was negative. [cureus.com]

• Respiratory Distress

  She was in the neonatal intensive care unit (NICU) for four weeks due to intrauterine growth restriction and severe respiratory distress. A cesarean section was done due to maternal bleeding and a previous cesarean section. [cureus.com]

• Common Cold

  The bleeding co-occurs whenever she develops the common cold. [cureus.com]

• High Arched Palate

  We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning disability with recurrent bleeding from the eyes and oral cavity. [cureus.com]

• Heart Murmur

  There was an innocent heart murmur detected at birth, which shortly subsided. This similarly occurred in both her maternal half-brother and sister at birth. The patient had one sister and one maternal half-brother. [cureus.com]

• Brittle Hair

  Her appearance was prominent for a narrow-shaped face with thin, brittle hair, short stature, an extremely thin habitus, deep-set eyes, and diffuse muscular atrophy. The rest of her physical exam was unremarkable. [cureus.com]

• Fracture

  An X-ray image of the patient’s anterior face ruled out morphological abnormalities or fractures leading to the patient's recurrent bleeding, as shown in Figure 3. [cureus.com]

• Muscular Atrophy

  Her appearance was prominent for a narrow-shaped face with thin, brittle hair, short stature, an extremely thin habitus, deep-set eyes, and diffuse muscular atrophy. The rest of her physical exam was unremarkable. [cureus.com]

• Suggestibility

  Our results suggest a pathogenic nature for the BP1-BP2 microdeletion and, although there obviously is an incomplete penetrance, they support the existence of a novel microdeletion syndrome in 15q11.2. (C) 2009 Elsevier Masson SAS. [research.rug.nl]

  The authors strongly suggested using CMA over G-type karyotyping for unexplained developmental or intellectual disabilities, autism spectrum disorders, or multiple congenital anomalies. [cureus.com]

• Compulsive Disorder

  The larger type I deletions appear to coincide with more severe behavioural problems (autism, ADHD, obsessive-compulsive disorder). [research.rug.nl]

  Other associations were ADHD (35%), autism spectrum disorder (27%), oppositional defiant disorder (24%), obsessive-compulsive disorder (26%), and schizophrenia or paranoid psychosis (20%). [cureus.com]

• Cesarean Section

  A cesarean section was done due to maternal bleeding and a previous cesarean section. Her mother reported her first words were at around three years of age. According to her past medical records, she presented with grunting and tachypnea at birth. [cureus.com]

• Grunting

  According to her past medical records, she presented with grunting and tachypnea at birth. She continued to grunt despite 30% oxygen therapy, which subsided after three hours. Her group B streptococcus testing was negative. [cureus.com]

and in some cases, due to treatment also. [dovemed.com]

Treatment depends on the signs and symptoms in each person. For more information, visit GARD. [rarediseases.org]

15q11.2 microdeletion; Del(15)(q11.2); Monosomy 15q11.215q11.2 BP1-BP2 microdeletion syndrome; 15q11.2 microdeletion syndrome; Chromosome 15q11.2 deletion; Chromosome 15q11.2 microdeletion; Del(15)(q11.2); Monosomy 15q11.2 About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]

Valente et al. [11] also reported in Angelman syndrome that those with the 15q11–q13 type I deletion had more severe seizures and were refractory to treatment compared with those having the type II deletion. [ncbi.nlm.nih.gov]

What is the Prognosis of Chromosome 15q11.2 Microdeletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 15q11.2 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

(Etiology) Chromosome 15q11.2 Microdeletion Syndrome is caused by a deletion of genetic material in the long arm (q) of chromosome 15. [dovemed.com]

Further studies are needed to outline the underlying pathophysiology of this syndrome, and detailed diagnostic guidelines are needed. [cureus.com]

How can Chromosome 15q11.2 Microdeletion Syndrome be Prevented? Chromosome 15q11.2 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]