At present, the girl’s weight and height are at 7100 g and 54 cm respectively. She has gained the ability to sit and as of lately can manage a few one-syllable words. [ncbi.nlm.nih.gov]

This event will give result depend of the amount of duplicated and deleted material present in the resulting recombinant chromosomes [6]. [molecularcytogenetics.biomedcentral.com]

Therefore, it is unlikely that a disomic region is present in the interval supporting that the 14q inverted duplication and deletion in our patient is most likely resulted from a U-type exchange following a double-strand break. [medcraveonline.com]

Abstract We present a family with multiple carriers of a subtle balanced translocation t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome complement. [pubmed.ncbi.nlm.nih.gov]

• Delayed Growth and Development

  Overtime the mother noticed delay in the growth and development of the child and opted for a different workup. [ncbi.nlm.nih.gov]

• Weight Loss

  Since then her weight loss has continued. She received hormone therapy which was rendered ineffective and finally a genetic consultation was carried out. [ncbi.nlm.nih.gov]

• Cyanosis

  Following abnormal ABG and mild cyanosis in the patient, echocardiography was carried out and the results were PDA, ASD20size 7-8mm, L->R shunt, good ejection fraction and no pulmonary hypertension. [ncbi.nlm.nih.gov]

• Hypertension

  Following abnormal ABG and mild cyanosis in the patient, echocardiography was carried out and the results were PDA, ASD20size 7-8mm, L->R shunt, good ejection fraction and no pulmonary hypertension. [ncbi.nlm.nih.gov]

• Low Set Ears

  The infant had cranial dysmorphy with hypertelorism, slightly mongoloid eye slits, a high-arched palate, a broad base of the nose, one umbilical artery, and low-set ears. The infant was moderately hypotonic. [docksci.com]

  Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. [molecularcytogenetics.biomedcentral.com]

  The patient was diagnosed to be mentally impaired with an unusual facial feature, including a high forehead, epicanthic folds, large and low set ears, a small jaw and chin and also a large tongue. [ncbi.nlm.nih.gov]

  Additional dysmorphic features were noted including midface retrusion, broad forehead, hypertelorism, low-set ears, low nasal bridge with hypoplastic alae nasi, single palmar creases, brachydactyly, nystagmus and hypotonia (Figure 3). [medcraveonline.com]

• Muscle Weakness

  Due to muscle weakness in the lower limbs, the patient was unable to walk unassisted and also had difficulty in sitting (Fig 1). Examination revealed evidence of generalized weakness with reduced muscle tone and diminishment. [ncbi.nlm.nih.gov]

• Sweating

  In the new laboratory assessments, the following findings were observed : Zinc: 59 mcg/dl (N: 63.8-110), Sweat test: (weight 529 mg, Cl- 20, Na+ 20), ABG: pH: 7.38, PO2 : 33.5 mmHg, HCO3 -: 19.9 mmol/l, PCO2 : 33.2 mmHg and O2 Sat: 63.1%. [ncbi.nlm.nih.gov]

• Sparse Eyelashes

  eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies. [semanticscholar.org]

• Suggestibility

  Our results suggest that genetic counselling and a follow up karyotyping should be performed when an increased nuchal translucency is observed. Acknowledgments There is no conflict of interest in this article. References 2. Turnpenny PD, Ellard S. [ncbi.nlm.nih.gov]

• Dystonia

  A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 2012;27(6):789–793. [ncbi.nlm.nih.gov]

• Insomnia

  She suffers from skin allergy, insomnia and recurrent gastroenteritis and is undergoing physiotherapy and occupational therapy. [ncbi.nlm.nih.gov]

• Unable to Walk

  Due to muscle weakness in the lower limbs, the patient was unable to walk unassisted and also had difficulty in sitting (Fig 1). Examination revealed evidence of generalized weakness with reduced muscle tone and diminishment. [ncbi.nlm.nih.gov]

Overtime the mother noticed delay in the growth and development of the child and opted for a different workup. [ncbi.nlm.nih.gov]

• Liver Biopsy

  Cholestasis from bile duct obstruction developed and paucity of bile ducts were seen on liver biopsy. Severe obstructive sleep apnea, periodic respirations and central apnea were noted on polysomnography. [medcraveonline.com]

Cultures were harvested using protocol, including hypotonic treatment of 0.56% KCl (0,065 M) (Merck/ VWR) for 20 minutes at 37˚C and three periods of fixation in methanol: glacial acetic acid (3:1). [ncbi.nlm.nih.gov]

Molecular studies in 37 SilverRussell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. 1997;100(3-4):415–419. [PubMed] [Google Scholar] 15. Rougeulle C, Glatt H, Lalande M. [ncbi.nlm.nih.gov]

The female patient was the product of a 34 week vaginal delivery to a healthy 19 year old primagravid woman and her unrelated partner with unremarkable prenatal history, no pregnancy complications and unknown etiology for preterm labor. [medcraveonline.com]