bui_24_ASD_discovery_cases-caseASD025

  NA NA

 6 yrs.

 F

 ASD

 Birth/neonatal infection: mother suffered from Rubella infection one month before pregnancy, born at 38 weeks gestation with a birth weight of 2800 g without any complications. Developmental milestones: developmental delay, delayed ability to walk (2 years), speech delay (babbling at 3 years). Language and communication evaluation: lack of speech and non-verbal communication. Motor and musculoskeletal evaluation: reduced gross and fine motor skills, flat feet. Behavioral/psychiatric evaluation: diagnosed with autism (ICD-10 F84.0, DSM5 level 3, ADOS 17/12, CARS 45.5), repetitive behavior. Family history: normal family history.

 Diagnosed with intellectual disability (ICD-10 F70)

 68088669

 73351341

  5262673

 GRCh38

 Deletion

 Yes

  marcou_17_DD/ID_discovery_cases-case1

  Marcou CA , et al. 2017

 12 yrs.

 F

 Global developmental delay/intellectual disability

 Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.

 Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.

 68031693

 71593495

  3561803

 GRCh38

 Deletion

 Yes

  wischmeijer_10_MR_discovery_cases-proband

  Wischmeijer A , et al. 2011

 8.5 yrs.

 F

 Mental retardation (MR)

 Severe language delay, multiple dysmorphic features (prominent forehead; eyes: ptosis, strabismus, astigmatism; ears: low set, posteriorly rotated, small simple ears with overfolded helices, preauricular tag; nose: round overhanging tip & hypoplastic alae nasi, broad nasal bridge; mouth: small, thin upper lip; teeth: small & central incisors widely spaced; long slender fingers; feet: metatarsus adductus, partial cutaneous syndactyly of toes II-III)

 Moderate-to-severe MR

 68001284

 71575789

  3574506

 GRCh38

 Deletion

 Yes